SNPJam Report for VWF

Showing coding SNPs for VWF (Gene ID: 7450)

Show all SNPs for this gene at dbSNP

This SNP viewer is in beta and your feedback is appreciated!

This SNPJam view is a snapshot of the information available at dbSNP and HapMap. It has been reformated to include the information most relevant to drug and metabolomics research.

Please note that population frequency data is updated on a nightly basis and may not be present if this gene was recently annotated.

Show all non-coding SNPs

[Top]

RS ID: 79635846 Link_out

Alleles: G/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 6180498

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGTACCTGAAACCAGAGCTGGGGTCACGTGGTTGCAGCCAACCTGTGCAGAGAGGGCAACTTCTCGCTGCCTTGAGTTGTGGCC
CTCCCTGTCTGGTAAGAGAGGAGGAGACGCCTCCCCGATTCAGGGAAGGAGGAAGAGAATGAGCGGCAGGTCGCCTACCTGGACATTCTT
CATTGCTGCAGATCCACTGGCTG G/T TTCGGCAAATGCTGTTGGAGGGAAAAAGCACAGGTCATTGGTGGTTCTGCAAACACAAGGGT
ATGCAAATGGATTTAGAGCTCATGGTAGTTATCACAGTCCCCAAACGAAGGGATGTGGGAAAAGAAAAGAGCTGGTGCTAGCAGAATCTT
CATAGGGTTAAAATTGTACAGGACAGAGCTTTGGCCACAAAGGAATCT-3'

[Top]

RS ID: 78995469 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6161792

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTGGAAGATCTCACCGTCATAGTAACAGGGGCACTGGGCCTTGGGCAC A/G CAGTCCCCCCTCTCATCCATGTAGAGCCCTGG
GGGGCAGAAGCAGCCCTC-3'

[Top]

RS ID: 78516266 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6180501

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTACCTGAAACCAGAGCTGGGGTCACGTGGTTGCAGCCAACCTGTGCAGAGAGGGCAACTTCTCGCTGCCTTGAGTTGTGGCCCTC
CCTGTCTGGTAAGAGAGGAGGAGACGCCTCCCCGATTCAGGGAAGGAGGAAGAGAATGAGCGGCAGGTCGCCTACCTGGACATTCTTCAT
TGCTGCAGATCCACTGGCTGTTT C/T GGCAAATGCTGTTGGAGGGAAAAAGCACAGGTCATTGGTGGTTCTGCAAACACAAGGGTATG
CAAATGGATTTAGAGCTCATGGTAGTTATCACAGTCCCCAAACGAAGGGATGTGGGAAAAGAAAAGAGCTGGTGCTAGCAGAATCTTCAT
AGGGTTAAAATTGTACAGGACAGAGCTTTGGCCACAAAGGAATCTTAG-3'

[Top]

RS ID: 78353028 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 6061675

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCT
CAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGT
GAGTATCACAGCCATCCTGGAGC A/G TCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAG
CCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCA
CACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTAT-3'

[Top]

RS ID: 78302129 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125820

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAG A/G CCCTAAACGGAACGAGAAAATGCGGATTATTT
TGAATCAAGTAGAGCCAC-3'

[Top]

RS ID: 77853528 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153617

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGGACACACCAGCTTGACCATGGGGGGCCGACAGGATAGGCTCCTTTTG C/T CTCGAAGGTAGGAAAAGCAAAGAGATGATTAG
TGAAGGAGAGAATGGACC-3'

[Top]

RS ID: 76505074 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6219681

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGCCCTATGCCTCCAAAGGGCTGTATCTAGAAACTGAGGCTGGGTACTACAAGCTGTCC A/G GTGAGGCCTATGGCTTTGTGGC
CAGGATCGATGGCAGCGGCAACTTTCAAGTCCTGCTGT-3'

[Top]

RS ID: 76459136 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6061588

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGC
CGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTCCCTCAG
CCAGACACTTGTGTTCATCAAAG C/G GTGGGCAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAG
TGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCA
CTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAG-3'

[Top]

RS ID: 76342212 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6103072

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTCCATCTTATTTGATCCTAACTGGAATCCCAGGTCATACGAAATACAGGGATTTTCATCCTTATTAGCCAGATAAAGAATCTGG
GGCACAGAGAGGCTGAGCAAGCCCAGTTAGCTGGTCTCCAGGATTTTCAGAGGTAACTTGGAGACTCACCACAGAAATCAGGTGTCCTCC
AGTCAACGCAGACCCCGTTGGTC C/T GACAGAGGTGGGCATAAGAGGCGATCACCTCACACACTTGCTCCTGGTGGCAACTGTCCTGC
TGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGGGAGCTGTCG
GGGACAAGACACTGCTCCTCCAGGATGGGCTGGCACGTCTGCCCTGGC-3'

[Top]

RS ID: 75645183 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6145590

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 A [Ala] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACTGAGCCTCACCAAGTGTTGCAGCCAATCTTCACTGTTTCTCCAGGG G/T CATACTCCTTGCCCTGATGGAAGCAGGGACAC
CTTTCCAGGGCCACACAT-3'

[Top]

RS ID: 74809984 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 6058344

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 Y [Tyr] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGCAGCAGCAGGCACCCATGCAGCTGCAGCAGCCTCACTTGCTGCACTTCCTGGGGGAGCATTTGCACTCCATGGCATTGAGAA
CCTCATGGTACACAACAGAGCCATTGGTGCAGTGCAGGGCCACCTGCATGGGCTCCGTCCGTGTCGGAGAGCAGCAGGAGCACTGGTCCT
GCACATCGTTGATGTCAATGGAG C/T ACATGGCTTTGCTGGCACATTTGCCCTGCAAGAAAGCAGAGGAAGATGGGAGCTTCACAATG
GTGGGAAGTCCTGGCTTAGGCAGGGCTCTGGGGCAGCCTGCTTTCTCCCTGACCCCCTCCAAGCAAGGCAGGTCTGATCTCACCCAGAAG
CACCCAGGACAGCTAGGCAATTTGTAAAGGAAGATCATAGGTCTGACA-3'

[Top]

RS ID: 74719052 Link_out

Alleles: A/C

Validation:

  • By frequency

Details:

Chromosome Reference Position
12 6105308

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGGTGGTTTTCCTGACATTCTATTGCCTTACCACGGATCCACAGAAAGTACTTCTCACCTCCATGTCACTGTGCAGCTCGACGGA
GAGGGCACTGTGCTTCACCTCGATGGATTTCATGCAGCCCTGCCTTGCTCCAGGGCTGCAGGCACCATTATGGAGAATCACCTCCAGGTC
CTGCTCCTTGTTTTGAAATAGGA A/C ATAAGAACAGCTGCCAGTCAGCTTGAAATTCTGCCCATCAAAGGTCACGATGTGCCGAGTGG
AGCTGCCTGTGCACACGCCTGGACAGAGAGAAGCAGAGGATGGATGCGACGTTATCCAAACCCCCATGCCTACTACATGCAGACAGGCAG
GTGTGACCAAGTTGCACACAGATAAATACAGTAGAGAATGGAACAGGC-3'

[Top]

RS ID: 74509284 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6125934

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGGCTTTCTCCGGGACCACGTTCCATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGG
CCCTAAACGGAACGAGAAAATGCGGATTATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCG
CTCACCCACCTATATTGGCTTTT G/T AAATGAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAG
CCATCCAGGAGAAGGATCACGTCCAGGGGCTGGCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATG
GCCACCAGGCCTACAACCTGACATCCAATAGGATCTGCAGGGCGTGCT-3'

[Top]

RS ID: 71700612 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058369

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAGAACCGGTCTCAGAACTCAGCCCCTGCCCACCGTTGCCATCTCAGCCCTACGACACAGTGCACCAGCAGCCTTTTGCAAGATAA
GAGCTCAGCCTTTATTGTGGGCTCAGAAGGGCACAAGAGCAGAACATGCAGAGGACTGGCAGCACTCTGGCCTGGCCATCAGGCCAAGGC
AGGCAGCAGCAGGCACCCATGCAGCTGCAGCAGCCTCACTTGCTGCACTTCCTGGGGGAGCATTTGCACTCCATGGCATTGAGAACCTCA
TGGTACACAACAGAGCCATTGGTGCAGTGCAGGGCCACCTGCATGGGCTCCGTCCGTGTCGGAGAGCAGCAGGAGCACTGGTCCTGCACA
TCGTTGATGTCAATGGAGTACATGGCTTTGCTGGCACATTTGC (LARGEDELETION)/- CCTGGCAGTAGTGGATATCCACCTCTAC
TTCAGACTTACAGCTTCCCACCTTGACATACTGCAGCCTGGCAGTGATGTCGTTGCACTCAGGCTCCTCACCTACAGGACAGGTGAGAGA
TGAAACTTGAGGACTGGCTGGGGTTCTAGAGAACACTCTTCAGCCCCAGTGCCCTCACTGGGCTGGAAATAGGTCCCTTTCACAGTAACC
AAATAAAGCCAGCCACAGGGAGGGAATTCAGTTATCCTGGTTCACCTCAGCTGTTCCTGGCCCGAAATATGCAGAGATATAGTTATTGCT
GGACTTAACTCACTTAATGGTACAATTTTAATTGCAGGAAGAGCCTAAATTCACTGTGCTATGGTGATGTAAAATGAGGAAGACTTGCCT
TTGTATCATTG-3'

[Top]

RS ID: 71582884 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6181529

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCACCTGCCACCACCCCTGCTGACCCAGCTTCCCTCCCCAGTCCCCCAGGCAGGTCTCCCAGAGCACGCTGCGCAGCCCCCATTA
CCAGGTGTTGCAGTCTCGAGAGAGGGAGGTGCC A/G GGAGGGTAGCGCTTTCCGGAATGCACGCAGGGACACTCGGTGCTCTCCACGC
AGAGGCCTTCATCCAGGAGCTGTCCCTCTGGGGTCAAGGGCATCAAGACAAAGGCCTCAACATTGTCA-3'

[Top]

RS ID: 71582882 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6219663

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTGGGTCATAAAGTCATCTTCAGCAAAGATGTTAAAGTTGCCACACAGCCCGCAGGTCTTGTTGAAGTATCTGTCTGACAGCAGGA
CTTGAAAGTTGCCGCTGCCATCGATCCTGGCCA A/C AAAGCCATAGGCCTCACCGGACAGCTTGTAGTACCCAGCCTCAGTTTCTAGA
TACAGCCCTTTGGAGGCATAGGGCATGGAGACTCTGGAGGGCAAAGGCTAAGTTCAGAAGTGGGCTTC-3'

[Top]

RS ID: 71582868 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125340

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCCTGAATTGAGGACTGTACACCAGATTCTTACTGTTGGACCTGGCGGCATCAGCTGCTGCATCCACTGAATCCACAGAGACGTC
CGTGACCAGGATGACCACCGCCTTTGAGGCTCC C/T GGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGG
CATCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAA-3'

[Top]

RS ID: 71581020 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6101027

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAATCACTGGTGAACATATCTCCCTTTTGACCCAAGAGGGAAGCAGCCCCATGGGAAGTGAAAGGCCCAGGCTCCTACCTGGTGCTG
GACTCCATCCTCACCAATGCACTGAGTGCAGGC C/T TCTTCAGGGACACAGCTGCCTTCCAACATGACTTTATCTGGAGGGCAGAAAC
AGCCTTCGGAGGGATGGTCCCCACAGGAGCTCACGTTGCCATCACAGTGCCGGGGACAGCCATGCTCA-3'

[Top]

RS ID: 71579338 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103249

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 I [Ile] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCTGCTGGCAGATGGCATAGAATGTGGCTGGAGCCAGGACCTTGTGGCATTCAGCAAACAGTGGTAAGAGGAGGACCTGGCAGTGG
GAGCTGTCGGGGACAAGACACTGCTCCTCCAGG A/G TGGGCTGGCACGTCTGCCCTGGCCGCTGCACAGTCCATTCCTGAACAAGTGT
TTTCCAGTCTGTGGTGACTGTGCCATCCCTCAGCATGAAGTCATTGGCTCCGTTCTCATCACAGATCC-3'

[Top]

RS ID: 63749069 Link_out

Alleles: -/ACGGATGTCCCGGAACTTTGTCCGCTACGTCCA

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128379

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 QRMSRNFVRYVQ / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCA
GCCAGGAGCCCCA -/ACGGATGTCCCGGAACTTTGTCCGCTACGTCCA GGGCCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGGGC
ATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAAC-3'

[Top]

RS ID: 63749068 Link_out

Alleles: -/AGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCC

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128425

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 A [Ala] / AARWPPPARSXNTHCSKSSARSTALKPPASPCSXWP

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCT
GCTCCTGATGGCC -/AGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGA
AGCCTCCCGCATCGCCCTGCTCCTGATGGCC AGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGA
AGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATG-3'

[Top]

RS ID: 63749067 Link_out

Alleles: -/GCGCCTGCCCTGCCCTCCTGGAGT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6184564

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 CACPALLEY / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCACCTCGGTGTTTGCCCGCTGCCACCCTCTGGTGGACCCCGAGCCTTTTGTGGCCCTGTGTGAGAAGACTTTGTGTGAGTGTGCT
GGGGGGCTGGAGT -/GCGCCTGCCCTGCCCTCCTGGAGT ACGCCCGGACCTGTGCCCAGGAGGGAATGGTGCTGTACGGCTGGACCGA
CCACAGCGCGTGCAGCCCAGTGTGCCCTGCTGGTATGGAGTATAGGCAGTG-3'

[Top]

RS ID: 63749066 Link_out

Alleles: -/GGTACTACAAGCTG

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6219685

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTGACATCCATTTGTTTGTCAATGGTACCGTGACACAGGGGGACCAAAGAGTCTCCATGCCCTATGCCTCCAAAGGGCTGTATCTA
GAAACTGAGGCTG -/GGTACTACAAGCTG TCCGGTGAGGCCTATGGCTTTGTGGCCAGGATCGATGGCAGCGGCAACTTTCAAGTCCT
GCTGTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTG-3'

[Top]

RS ID: 63524161 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128769

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTG
CACGATTTCTACT C/G CAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCT
GAAGGCCTTTGTGGTGGACATGATGGAG-3'

[Top]

RS ID: 63524160 Link_out

Alleles: -/ATTTCTACT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128769

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / ISTC

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTG
CACGATTTCTACT -/ATTTCTACT GCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTT
TGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGA-3'

[Top]

RS ID: 62643643 Link_out

Alleles: -/CCACTACTG

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058373

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 I [Ile] / IPLL

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGCTGTGACACATGTGAGGAGCCTGAGTGCAACGACATCACTGCCAGGCTGCAGTATGTCAAGGTGGGAAGCTGTAAGTCTGAAG
TAGAGGTGGATAT -/CCACTACTG CCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCAGGACCAGTGC
TCCTGCTGCTCTCCGACACGGACGGAGCCCATGCAG-3'

[Top]

RS ID: 62643642 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6080876

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCGCGTGGCCCAGTGCTCCCAGAAGCCCTGTGAGG
ACAGCTGTCGGTC A/G GGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACT
GGCTCACCGCGGGGGGACTCCCAGTCTT-3'

[Top]

RS ID: 62643637 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128911

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACCCTGAAGACTGTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCTTGAATCCCAGTGACCCTGA
GCACTGCCAGATT G/T GCCACTGTGATGTTGTCAACCTCACCTGTGAAGCCTGCCAGGAGCCGGGAGGCCTGGTGGTGCCTCCCACAG
ATGCCCCGGTGAGCCCCACCACTCTGTA-3'

[Top]

RS ID: 62643627 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166239

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCACGGGGACTGCCAGGACCTGCAGAAGCAGCACAGCGATCCCTGCGCCC
TCAACCCGCGCAT G/T ACCAGGTTCTCCGAGGAGGCGTGCGCGGTCCTGACGTCCCCCACATTCGAGGCCTGCCATCGTGCCGTCAGC
CCGCTGCCCTACCTGCGGAACTGCCGCT-3'

[Top]

RS ID: 62641244 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6059041

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGGTCACAGGCTGCCCACCCTTTGATGAACACAAGTGTCTGGCTGAGGGAGGTAAAATTATGAAAATTCCAGGCACCTGCTGTGA
CACATGTGAGGAG C/G CTGAGTGCAACGACATCACTGCCAGGCTGCAGTATGTCAAGGTGGGAAGCTGTAAGTCTGAAGTAGAGGTGG
ATATCCACTACTGCCAGGGCAAATGTGC-3'

[Top]

RS ID: 62641243 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6061594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACACTGAAGCGTGATGAGACGCTCCAGGATGGCTGTGATACTCACTTCTGCAAGGTCAATGAGAGAGGAGAGTACTTCTGGGAGAAG
AGGGTCACAGGCT A/G CCCACCCTTTGATGAACACAAGTGTCTGGCTGAGGGAGGTAAAATTATGAAAATTCCAGGCACCTGCTGTGA
CACATGTGAGGAGCCTGAGTGCAACGAC-3'

[Top]

RS ID: 62641242 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6094249

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCTGCACATGCCTCAGCGGGCGGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCCAAAGCTCCCACGTGTGGCCTGTGTGAA
GTAGCCCGCCTCC A/G CCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTGTGTGTGACCCAGTGAGCTGTGACCTGCCCCCAGT
GCCTCACTGTGAACGTGGCCTCCAGCCC-3'

[Top]

RS ID: 61909722 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127879

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGATGAGGATAGGGGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGG
ATGTCTCCAGGCAGCCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGG
CTGACCAAGAAGCTGTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGC A/G GATCTCTCGCAC
CCGCTGCAGGATGTCCCCTTTGGACTGTGCCTCGCTGAAGGGGTACTCCACAGTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGAT
GCTGTCCTGGCCCACATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCC
TTCCAGGACGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAA-3'

[Top]

RS ID: 61754018 Link_out

Alleles: -/GCG

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166094

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 A [Ala] / AA

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCGAGGCCTGCCATCGTGCCGTCAGCCCGCTGCCCTACCTGCGGAACTGCCGCTACGACGTGTGCTCCTGCTCGGACGGCCGCGAG
TGCCTGTGCGGCG -/GCG CCCTGGCCAGCTATGCCGCGGCCTGCGCGGGGAGAGGCGTGCGCGTCGCGTGGCGCGAGCCAGGCCGCTG
TGAGCTGAACTGCCCGAAAGGCCAGGTGTA-3'

[Top]

RS ID: 61754017 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166099

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACATTCGAGGCCTGCCATCGTGCCGTCAGCCCGCTGCCCTACCTGCGGAACTGCCGCTACGACGTGTGCTCCTGCTCGGACGGCC
GCGAGTGCCTGTG C/G GGCGCCCTGGCCAGCTATGCCGCGGCCTGCGCGGGGAGAGGCGTGCGCGTCGCGTGGCGCGAGCCAGGCCGC
TGTGAGCTGAACTGCCCGAAAGGCCAGG-3'

[Top]

RS ID: 61754016 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166110

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGACGTCCCCCACATTCGAGGCCTGCCATCGTGCCGTCAGCCCGCTGCCCTACCTGCGGAACTGCCGCTACGACGTGTGCTCCTG
CTCGGACGGCCGC G/T AGTGCCTGTGCGGCGCCCTGGCCAGCTATGCCGCGGCCTGCGCGGGGAGAGGCGTGCGCGTCGCGTGGCGCG
AGCCAGGCCGCTGTGAGCTGAACTGCCC-3'

[Top]

RS ID: 61754015 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166138

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGGTTCTCCGAGGAGGCGTGCGCGGTCCTGACGTCCCCCACATTCGAGGCCTGCCATCGTGCCGTCAGCCCGCTGCCCTACCTGC
GGAACTGCCGCTA A/C GACGTGTGCTCCTGCTCGGACGGCCGCGAGTGCCTGTGCGGCGCCCTGGCCAGCTATGCCGCGGCCTGCGCG
GGGAGAGGCGTGCGCGTCGCGTGGCGCG-3'

[Top]

RS ID: 61754013 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167035

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCCCTCTGGGCTGGCAGAGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCACGGGGACTGCCAGGACCTGCAGAAGCAG
CACAGCGATCCCT C/G CGCCCTCAACCCGCGCATGACCAGGTTCTCCGAGGAGGCGTGCGCGGTCCTGACGTCCCCCACATTCGAGGC
CTGCCATCGTGCCGTCAGCCCGCTGCCC-3'

[Top]

RS ID: 61754012 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167087

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCTGCGGCCTGTGTGGGAATTACAATGGCAACCAGGGCGACGACTTCCTTACCCCCTCTGGGCTGGCAGAGCCCCGGGTGGAGGA
CTTCGGGAACGCC -/T TGGAAGCTGCACGGGGACTGCCAGGACCTGCAGAAGCAGCACAGCGATCCCTGCGCCCTCAACCCGCGCATG
ACCAGGTTCTCCGAGGAGGCGTGCGCGG-3'

[Top]

RS ID: 61754011 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167096

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCCGGGAAGACCTGCGGCCTGTGTGGGAATTACAATGGCAACCAGGGCGACGACTTCCTTACCCCCTCTGGGCTGGCAGAGCCCCG
GGTGGAGGACTTC A/G GGAACGCCTGGAAGCTGCACGGGGACTGCCAGGACCTGCAGAAGCAGCACAGCGATCCCTGCGCCCTCAACC
CGCGCATGACCAGGTTCTCCGAGGAGGC-3'

[Top]

RS ID: 61754010 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167161

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGAGGACCTGCAGATGGACTGGGATGGCCGCGGGAGGCTGCTGGTGAAGCTGTCCCCCGTCTACGCCGGGAAGACCTGCGGCCTG
TGTGGGAATTACA A/G TGGCAACCAGGGCGACGACTTCCTTACCCCCTCTGGGCTGGCAGAGCCCCGGGTGGAGGACTTCGGGAACGC
CTGGAAGCTGCACGGGGACTGCCAGGAC-3'

[Top]

RS ID: 61754008 Link_out

Alleles: -/GACGCTGTGTGCACCCGC

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6173518

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 R [Arg] / RTLCAP

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCACCTTCAGTGGGATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCCTTCTCCATTGTCATTGAGACTGTCCAGTG
TGCTGATGACCGC -/GACGCTGTGTGCACCCGC TCCGTCACCGTCCGGCTGCCTGGCCTGCACAACAGCCTTGTGAAACTGAAGCATG
GGGCAGGAGTTGCCATGGATGGCCAGGACATCCAGCTCCCCCTCC-3'

[Top]

RS ID: 61754007 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6174316

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 I [Ile] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCACTTCAAGAGCTTTGACAACAGATACTTCACCTTCAGTGGGATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCC
TTCTCCATTGTCA A/T TGAGACTGTCCAGTGTGCTGATGACCGCGACGCTGTGTGCACCCGCTCCGTCACCGTCCGGCTGCCTGGCCT
GCACAACAGCCTTGTGAAACTGAAGCAT-3'

[Top]

RS ID: 61754006 Link_out

Alleles: -/AATCCC

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6174383

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 F [Phe] / LIP

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGCCGAAACAGCCAGTGGATCTGCAGCAATGAAGAATGTCCAGGGGAGTGCCTTGTCACTGGTCAATCCCACTTCAAGAGCTTTGA
CAACAGATACTTC -/AATCCC ACCTTCAGTGGGATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCCTTCTCCATTGTCA
TTGAGACTGTCCAGTGTGCTGATGACCGCGACG-3'

[Top]

RS ID: 61754003 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6181513

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTGAGGGACAGCTCCTGGATGAAGGCCTCTGCGTGGAGAGCACCGAGTGTCCCTGCGTGCATTCCGGAAAGCGCTACCCTCCCGG
CACCTCCCTCTCT C/T GAGACTGCAACACCTGCATTTGCCGAAACAGCCAGTGGATCTGCAGCAATGAAGAATGTCCAGGGGAGTGCC
TTGTCACTGGTCAATCCCACTTCAAGAG-3'

[Top]

RS ID: 61754002 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6181535

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGCGTGGATGGCTGCAGCTGCCCTGAGGGACAGCTCCTGGATGAAGGCCTCTGCGTGGAGAGCACCGAGTGTCCCTGCGTGCATT
CCGGAAAGCGCTA A/C CCTCCCGGCACCTCCCTCTCTCGAGACTGCAACACCTGCATTTGCCGAAACAGCCAGTGGATCTGCAGCAAT
GAAGAATGTCCAGGGGAGTGCCTTGTCA-3'

[Top]

RS ID: 61754001 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6182811

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCAGCCCAGTGTGCCCTGCTGGTATGGAGTATAGGCAGTGTGTGTCCCCTTGCGCCAGGACCTGCCAGAGCCTGCACATCAATGAA
ATGTGTCAGGAGC A/G ATGCGTGGATGGCTGCAGCTGCCCTGAGGGACAGCTCCTGGATGAAGGCCTCTGCGTGGAGAGCACCGAGTG
TCCCTGCGTGCATTCCGGAAAGCGCTAC-3'

[Top]

RS ID: 61754000 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6182812

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCAGCCCAGTGTGCCCTGCTGGTATGGAGTATAGGCAGTGTGTGTCCCCTTGCGCCAGGACCTGCCAGAGCCTGCACATCAATGA
AATGTGTCAGGAG C/T GATGCGTGGATGGCTGCAGCTGCCCTGAGGGACAGCTCCTGGATGAAGGCCTCTGCGTGGAGAGCACCGAGT
GTCCCTGCGTGCATTCCGGAAAGCGCTA-3'

[Top]

RS ID: 61753998 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6184552

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACCCCGAGCCTTTTGTGGCCCTGTGTGAGAAGACTTTGTGTGAGTGTGCTGGGGGGCTGGAGTGCGCCTGCCCTGCCCTCCTGGA
GTACGCCCGGACC A/T GTGCCCAGGAGGGAATGGTGCTGTACGGCTGGACCGACCACAGCGCGTGCAGCCCAGTGTGCCCTGCTGGTA
TGGAGTATAGGCAGTGTGTGTCCCCTTG-3'

[Top]

RS ID: 61753997 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6184558

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGGTGGACCCCGAGCCTTTTGTGGCCCTGTGTGAGAAGACTTTGTGTGAGTGTGCTGGGGGGCTGGAGTGCGCCTGCCCTGCCCT
CCTGGAGTACGCC C/T GGACCTGTGCCCAGGAGGGAATGGTGCTGTACGGCTGGACCGACCACAGCGCGTGCAGCCCAGTGTGCCCTG
CTGGTATGGAGTATAGGCAGTGTGTGTC-3'

[Top]

RS ID: 61753995 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6219594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTACAAGCTGTCCGGTGAGGCCTATGGCTTTGTGGCCAGGATCGATGGCAGCGGCAACTTTCAAGTCCTGCTGTCAGACAGATACTT
CAACAAGACCTGC G/T GGCTGTGTGGCAACTTTAACATCTTTGCTGAAGATGACTTTATGACCCAAGAAGGGACCTTGACCTCGGACC
CTTATGACTTTGCCAACTCATGGGCTCT-3'

[Top]

RS ID: 61753994 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6219623

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGCTGTATCTAGAAACTGAGGCTGGGTACTACAAGCTGTCCGGTGAGGCCTATGGCTTTGTGGCCAGGATCGATGGCAGCGGCAAC
TTTCAAGTCCTGC A/T GTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTGGCAACTTTAACATCTTTGCTGAAGATGACTTTAT
GACCCAAGAAGGGACCTTGACCTCGGAC-3'

[Top]

RS ID: 61753993 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6219650

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGTCTCCATGCCCTATGCCTCCAAAGGGCTGTATCTAGAAACTGAGGCTGGGTACTACAAGCTGTCCGGTGAGGCCTATGGCTTT
GTGGCCAGGATCG A/G TGGCAGCGGCAACTTTCAAGTCCTGCTGTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTGGCAACTT
TAACATCTTTGCTGAAGATGACTTTATG-3'

[Top]

RS ID: 61753992 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6219651

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGAGTCTCCATGCCCTATGCCTCCAAAGGGCTGTATCTAGAAACTGAGGCTGGGTACTACAAGCTGTCCGGTGAGGCCTATGGCTT
TGTGGCCAGGATC A/G ATGGCAGCGGCAACTTTCAAGTCCTGCTGTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTGGCAACT
TTAACATCTTTGCTGAAGATGACTTTAT-3'

[Top]

RS ID: 61753991 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6219687

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 L [Leu] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCGATTGCTGATCTAGGTCCTCAGCCACTTTGCACCATGTTCTGAACCCTACAACATGGGGTTGGGGTTAGAAGGTGGGAGAGAC
ATCCAGAAAATGCACAAGAAGCCCACTTCTGAACTTAGCCTTTGCCCTCCAGAGTCTCCATGCCCTATGCCTCCAAAGGGCTGTATCTAG
AAACTGAGGCTGGGTACTACAAG A/C TGTCCGGTGAGGCCTATGGCTTTGTGGCCAGGATCGATGGCAGCGGCAACTTTCAAGTCCTG
CTGTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTGGCAACTTTAACATCTTTGCTGAAGATGACTTTATGACCCAAGAAGGTAAG
ATGTTCTGGGATACCATTTCCCTAAAGTGTGGCCATGCTTTTTATTTC-3'

[Top]

RS ID: 61753989 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6220078

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 F [Phe] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTCCTGGCAGGGGGCTGCCAGAAACGCTCCTTCTCGATTATTGGGGACTTCCAGAATGGCAAGAGAGTGAGCCTCTCCGTGTATCT
TGGGGAATTTTTT -/T GACATCCATTTGTTTGTCAATGGTACCGTGACACAGGGGGACCAAAGAGTCTCCATGCCCTATGCCTCCAAA
GGGCTGTATCTAGAAACTGAGGCTGGGT-3'

[Top]

RS ID: 61753988 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6220079

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCTCCTGGCAGGGGGCTGCCAGAAACGCTCCTTCTCGATTATTGGGGACTTCCAGAATGGCAAGAGAGTGAGCCTCTCCGTGTATC
TTGGGGAATTTTT -/T GACATCCATTTGTTTGTCAATGGTACCGTGACACAGGGGGACCAAAGAGTCTCCATGCCCTATGCCTCCAAA
GGGCTGTATCTAGAAACTGAGGCTGGGT-3'

[Top]

RS ID: 61753987 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6230389

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGGAACTCGCGGCAGGTCATCCACGGCCCGATGCAGCCTTTTCGGAAGTGACTTCGTCAACACCTTTGATGGGAGCATGTACAGCT
TTGCGGGATACTG A/C AGTTACCTCCTGGCAGGGGGCTGCCAGAAACGCTCCTTCTCGATTATTGGGGACTTCCAGAATGGCAAGAGA
GTGAGCCTCTCCGTGTATCTTGGGGAAT-3'

[Top]

RS ID: 61753986 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6230413

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 S [Ser] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTGCCAGGGACCCTTTGTGCAGAAGGAACTCGCGGCAGGTCATCCACGGCCCGATGCAGCCTTTTCGGAAGTGACTTCGTCAACA
CCTTTGATGGGAG A/C ATGTACAGCTTTGCGGGATACTGCAGTTACCTCCTGGCAGGGGGCTGCCAGAAACGCTCCTTCTCGATTATT
GGGGACTTCCAGAATGGCAAGAGAGTGA-3'

[Top]

RS ID: 61753985 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6230421

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCCCTCATTTTGCCAGGGACCCTTTGTGCAGAAGGAACTCGCGGCAGGTCATCCACGGCCCGATGCAGCCTTTTCGGAAGTGACTT
CGTCAACACCTTT C/G ATGGGAGCATGTACAGCTTTGCGGGATACTGCAGTTACCTCCTGGCAGGGGGCTGCCAGAAACGCTCCTTCT
CGATTATTGGGGACTTCCAGAATGGCAA-3'

[Top]

RS ID: 61753984 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6230460

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGATTCCTGCCAGATTTGCCGGGGTGCTGCTTGCTCTGGCCCTCATTTTGCCAGGGACCCTTTGTGCAGAAGGAACTCGCGGCAGG
TCATCCACGGCC C/G GATGCAGCCTTTTCGGAAGTGACTTCGTCAACACCTTTGATGGGAGCATGTACAGCTTTGCGGGATACTGCAG
TTACCTCCTGGCAGGGGGCTGCCAGAA-3'

[Top]

RS ID: 61751313 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058282

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCAGGACCAGTGCTCCTGCTGCTCTCC
GACACGGACGGAG C/T CCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTACCATGAGGTTCTCAATGCCATGGAGTGCA
AATGCTCCCCCAGGAAGTGCAGCAAGTG-3'

[Top]

RS ID: 61751312 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058296

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCAGGACCAGTGC
TCCTGCTGCTCTC C/T GACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTACCATGAGGTTCTCAA
TGCCATGGAGTGCAAATGCTCCCCCAGG-3'

[Top]

RS ID: 61751311 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058305

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCAG
GACCAGTGCTCCT C/G CTGCTCTCCGACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTACCATGA
GGTTCTCAATGCCATGGAGTGCAAATGC-3'

[Top]

RS ID: 61751310 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058306

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCA
GGACCAGTGCTCC C/T GCTGCTCTCCGACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTACCATG
AGGTTCTCAATGCCATGGAGTGCAAATG-3'

[Top]

RS ID: 61751309 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058307

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGC
AGGACCAGTGCTC -/C TGCTGCTCTCCGACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTACCAT
GAGGTTCTCAATGCCATGGAGTGCAAAT-3'

[Top]

RS ID: 61751308 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058311

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCTGTAAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGAT
GTGCAGGACCAGT A/G CTCCTGCTGCTCTCCGACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGTA
CCATGAGGTTCTCAATGCCATGGAGTGC-3'

[Top]

RS ID: 61751307 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058312

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGCTGTAAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGACATCAACGA
TGTGCAGGACCAG A/T GCTCCTGCTGCTCTCCGACACGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGTGT
ACCATGAGGTTCTCAATGCCATGGAGTG-3'

[Top]

RS ID: 61751306 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058361

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCCTGAGTGCAACGACATCACTGCCAGGCTGCAGTATGTCAAGGTGGGAAGCTGTAAGTCTGAAGTAGAGGTGGATATCCACTACT
GCCAGGGCAAATG G/T GCCAGCAAAGCCATGTACTCCATTGACATCAACGATGTGCAGGACCAGTGCTCCTGCTGCTCTCCGACACGG
ACGGAGCCCATGCAGGTGGCCCTGCACT-3'

[Top]

RS ID: 61751305 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6058989

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTAAAATTATGAAAATTCCAGGCACCTGCTGTGACACATGTGAGGAGCCTGAGTGCAACGACATCACTGCCAGGCTGCAGTATGTC
AAGGTGGGAAGCT A/G TAAGTCTGAAGTAGAGGTGGATATCCACTACTGCCAGGGCAAATGTGCCAGCAAAGCCATGTACTCCATTGA
CATCAACGATGTGCAGGACCAGTGCTCC-3'

[Top]

RS ID: 61751303 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6061660

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGAATGTTGTGGGAGATGTTTGCCTACGGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGCGTGATGAGACG
CTCCAGGATGGCT A/G TGATACTCACTTCTGCAAGGTCAATGAGAGAGGAGAGTACTTCTGGGAGAAGAGGGTCACAGGCTGCCCACC
CTTTGATGAACACAAGTGTCTGGCTGAG-3'

[Top]

RS ID: 61751302 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6062708

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATTCAAGCTGGAGTGCAGGAAGACCACCTGCAACCCCTGCCCCCTGGGTTACAAGGAAGAAAATAACACAGGTGAATGTTGTGGG
AGATGTTTGCCTA C/T GGCTTGCACCATTCAGCTAAGAGGAGGACAGATCATGACACTGAAGCGTGATGAGACGCTCCAGGATGGCTG
TGATACTCACTTCTGCAAGGTCAATGAG-3'

[Top]

RS ID: 61751300 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078423

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCT
GCCCCTCGGGCTT -/T CAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTGAGCGCATGGAGGCCTGCATGCTCAAT
GGCACTGTCATTGGGCCCGGGAAGACTG-3'

[Top]

RS ID: 61751299 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078431

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGT
CCCTGTCTGCCCC -/C TCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCGCTGTGAGCGCATGGAGGCCTGC
ATGCTCAATGGCACTGTCATTGGGCCCG-3'

[Top]

RS ID: 61751298 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078470

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 N [Asn] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCTGGAAGAGTGTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTT
TATACAACAAAGG A/T ACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCTCAGCGT
GCTGCCCAAGCTGTCGCTGTGAGCGCAT-3'

[Top]

RS ID: 61751297 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078476

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGTCTTCCTGGAAGAGTGTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGA
GGTCTTTATACAA C/T AAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTCAGCTGAGCTGTAAGACCT
CAGCGTGCTGCCCAAGCTGTCGCTGTGA-3'

[Top]

RS ID: 61751296 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078503

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGTGTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCAT
CAATGAGTGTGTC C/T GAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCT
CGGGCTTTCAGCTGAGCTGTAAGACCTC-3'

[Top]

RS ID: 61751295 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078507

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGTGTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCC
TCATCAATGAGTG A/T GTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGC
CCCTCGGGCTTTCAGCTGAGCTGTAAGA-3'

[Top]

RS ID: 61751294 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078547

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 Q [Gln] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAG
AGTGTCGGCTCCC A/C GTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACA
AAGGAACGTCTCCTGCCCCCAGCTGGAG-3'

[Top]

RS ID: 61751293 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078554

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTC
CTGGAAGAGTGTC A/G GCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTA
TACAACAAAGGAACGTCTCCTGCCCCCA-3'

[Top]

RS ID: 61751292 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6080824

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGCGTGGCCCAGTGCTCCCAGAAGCCCTGTGAGGACAGCTGTCGGTCGGGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGG
AAGGTGCCTGCCA C/T CTGCCTGTGAGGTGGTGACTGGCTCACCGCGGGGGGACTCCCAGTCTTCCTGGAAGAGTGTCGGCTCCCAGT
GGGCCTCCCCGGAGAACCCCTGCCTCAT-3'

[Top]

RS ID: 61751291 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6080863

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCGCGTGGCCCAGTGCTCCCAGAAGCCCTGTGAGGACAGCTGTCGGTC
GGGCTTCACTTAC -/A GTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGTGGTGACTGGCTCACCGCGG
GGGGACTCCCAGTCTTCCTGGAAGAGTG-3'

[Top]

RS ID: 61751289 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6085284

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGAGGAGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCGCGTGGCCCAGTGCTCCCAGAAGCCC
TGTGAGGACAGCT A/G TCGGTCGGGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGTGCCTGCCATCTGCCTGTGAGGT
GGTGACTGGCTCACCGCGGGGGGACTCC-3'

[Top]

RS ID: 61751288 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6085306

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATCTACCCTGTGGGCCAGTTCTGGGAGGAGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCGCGT
GGCCCAGTGCTCC C/T AGAAGCCCTGTGAGGACAGCTGTCGGTCGGGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAAGGT
GCCTGCCATCTGCCTGTGAGGTGGTGAC-3'

[Top]

RS ID: 61751287 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6085309

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCATCTACCCTGTGGGCCAGTTCTGGGAGGAGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGCCGTGATGGGCCTCCG
CGTGGCCCAGTGC C/T CCCAGAAGCCCTGTGAGGACAGCTGTCGGTCGGGCTTCACTTACGTTCTGCATGAAGGCGAGTGCTGTGGAA
GGTGCCTGCCATCTGCCTGTGAGGTGGT-3'

[Top]

RS ID: 61751286 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6085324

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTGTCCACCGAAGCACCATCTACCCTGTGGGCCAGTTCTGGGAGGAGGGCTGCGATGTGTGCACCTGCACCGACATGGAGGATGC
CGTGATGGGCCTC C/T GCGTGGCCCAGTGCTCCCAGAAGCCCTGTGAGGACAGCTGTCGGTCGGGCTTCACTTACGTTCTGCATGAAG
GCGAGTGCTGTGGAAGGTGCCTGCCATC-3'

[Top]

RS ID: 61751285 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091063

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGCGCCTGCAGGAAGGAGGAGTGCAAAAGAGTGTCCCCACCCTCCTGCCCCCCGCACCGTTTGCCCACCCTTCGGAAGACCCAGT
GCTGTGATGAGTA G/T GAGTGTGCCTGCAACTGTGTCAACTCCACAGTGAGCTGTCCCCTTGGGTACTTGGCCTCAACCGCCACCAAT
GACTGTGGCTGTACCACAACCACCTGCC-3'

[Top]

RS ID: 61751284 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091101

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGAAGGAGGAGTGCAAAAGAGTGTCCCCACCCTCCTG
CCCCCCGCACCGT -/T TTGCCCACCCTTCGGAAGACCCAGTGCTGTGATGAGTATGAGTGTGCCTGCAACTGTGTCAACTCCACAGTG
AGCTGTCCCCTTGGGTACTTGGCCTCAA-3'

[Top]

RS ID: 61751283 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091104

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGAAGGAGGAGTGCAAAAGAGTGTCCCCACCCTC
CTGCCCCCCGCAC C/T GTTTGCCCACCCTTCGGAAGACCCAGTGCTGTGATGAGTATGAGTGTGCCTGCAACTGTGTCAACTCCACAG
TGAGCTGTCCCCTTGGGTACTTGGCCTC-3'

[Top]

RS ID: 61750632 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091108

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGAAGGAGGAGTGCAAAAGAGTGTCCCCAC
CCTCCTGCCCCCC -/C GCACCGTTTGCCCACCCTTCGGAAGACCCAGTGCTGTGATGAGTATGAGTGTGCCTGCAACTGTGTCAACTC
CACAGTGAGCTGTCCCCTTGGGTACTTG-3'

[Top]

RS ID: 61750631 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091113

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGAAGGAGGAGTGCAAAAGAGTGTC
CCCACCCTCCTGC -/C CCCCCGCACCGTTTGCCCACCCTTCGGAAGACCCAGTGCTGTGATGAGTATGAGTGTGCCTGCAACTGTGTC
AACTCCACAGTGAGCTGTCCCCTTGGGT-3'

[Top]

RS ID: 61750630 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6091154

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGTGAGCTGTGACCTGCCCCCAGTGCCTCACTGTGAACGTGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAAC
TTCACCTGCGCCT G/T CAGGAAGGAGGAGTGCAAAAGAGTGTCCCCACCCTCCTGCCCCCCGCACCGTTTGCCCACCCTTCGGAAGAC
CCAGTGCTGTGATGAGTATGAGTGTGCC-3'

[Top]

RS ID: 61750629 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6092369

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 G [Gly] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTGTGTGTGACCCAGTGAGCTGTGACCTGCCCCCAGTGCCT
CACTGTGAACGTG G/T CCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGAAGGAGGAGTG
CAAAAGAGTGTCCCCACCCTCCTGCCCC-3'

[Top]

RS ID: 61750628 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6092379

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTGTGTGTGACCCAGTGAGCTGTGACCTGCC
CCCAGTGCCTCAC C/T GTGAACGTGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACCTGCGCCTGCAGGA
AGGAGGAGTGCAAAAGAGTGTCCCCACC-3'

[Top]

RS ID: 61750626 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6094276

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTCCCGGACCACCAGCCCTGTCAGATCTGCACATGCCTCAGCGGGCGGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCC
AAAGCTCCCACGT A/G TGGCCTGTGTGAAGTAGCCCGCCTCCGCCAGAATGCAGACCAGTGCTGCCCCGAGTATGAGTGTGTGTGTGA
CCCAGTGAGCTGTGACCTGCCCCCAGTG-3'

[Top]

RS ID: 61750625 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6094771

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTGTTTGCCTGTGAGGCTCTGTCAGAGGGCTGGGTCAGGGACTGGCCCTTGCCGGAGGCAGGGAGAGCTGACCTCTGTGAATTCTG
GGCTTCGTACCTAGAATGTCCTGTGCCCTTTCTGAACCTCGCTTTGCCCTCAGTTCCTGGAAGCCTGGGTCCCGGACCACCAGCCCTGTC
AGATCTGCACATGCCTCAGCGGG C/T GGAAGGTCAACTGCACAACGCAGCCCTGCCCCACGGCCAAAGGTGAGAGTCCTCCCCTCCCT
GGTGCCTTCATGGAGGAACAAGGGCCCCTGCAAGGCCCCCCAGCCACCCATCTTCACCTCTGGCAGAGCAGACTCAAACACTGGCACCTA
GAGTCCTAGAGTGGGTGGGCTTCCTTGCCCAGCCTGCATTTCCCATCA-3'

[Top]

RS ID: 61750623 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6101086

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCTATGTCATGCCCACCATCTCTGGTCTACAACCACTGTGAGCATGGCTGTCCCCGGCACTGTGATGGCAACGTGAGCTCCTGTGG
GGACCATCCCTCC C/G AAGGCTGTTTCTGCCCTCCAGATAAAGTCATGTTGGAAGGCAGCTGTGTCCCTGAAGAGGCCTGCACTCAGT
GCATTGGTGAGGATGGAGTCCAGCACCA-3'

[Top]

RS ID: 61750622 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6101163

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGAGGTGATCGCCTCTTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGACACCTGATTTCTGTGCTATGTCA
TGCCCACCATCTC C/T GGTCTACAACCACTGTGAGCATGGCTGTCCCCGGCACTGTGATGGCAACGTGAGCTCCTGTGGGGACCATCC
CTCCGAAGGCTGTTTCTGCCCTCCAGAT-3'

[Top]

RS ID: 61750620 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103090

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGACAGTTGCCACCAGGAGCAAGTGTGT
GAGGTGATCGCCT C/T TTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGACACCTGATTTCTGTGCTATGTCATG
CCCACCATCTCTGGTCTACAACCACTGT-3'

[Top]

RS ID: 61750619 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103106

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGACAGTTGCCA
CCAGGAGCAAGTG G/T GTGAGGTGATCGCCTCTTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGACACCTGATT
TCTGTGCTATGTCATGCCCACCATCTCT-3'

[Top]

RS ID: 61750618 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103193

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGAGGAGCAGTGTCTTGTCCCCGACAGCTCCCACTGCCA
GGTCCTCCTCTTA C/T CACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGACAGTTGCC
ACCAGGAGCAAGTGTGTGAGGTGATCGC-3'

[Top]

RS ID: 61750617 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103241

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCATGCTGAGGGATGGCACAGTCACCACAGACTGGAAAACACTTGTTCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCA
GCCCATCCTGGAG G/T AGCAGTGTCTTGTCCCCGACAGCTCCCACTGCCAGGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGG
TCCTGGCTCCAGCCACATTCTATGCCAT-3'

[Top]

RS ID: 61750616 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103315

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 T [Thr] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCTCAGCCCCAAGACTTTTGCTTCAAAGACGTATGGTCTGTGTGGGATCTGTGATGAGAACGGAGCCAATGACTTCATGCTGAGG
GATGGCACAGTCA C/T CACAGACTGGAAAACACTTGTTCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGA
GGAGCAGTGTCTTGTCCCCGACAGCTCC-3'

[Top]

RS ID: 61750615 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6103650

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGGTGAATGGGAGACTGGTCTCTGTTCCTTACGTGGGTGGGAACATGGAAGTCAACGTTTATGGTGCCATCATGCATGAGGTCAGA
TTCAATCACCTTGGTCACATCTTCACATTCACT C/T CACAAAACAATGAGTTCCAACTGCAGCTCAGCCCCAAGACTTTTGCTTCAAA
GACGTATGGTCTGTGTGGTAAGAACATTTTCTCAACTCCTCTTCTCCCCCTGCTATACATTTATAAAC-3'

[Top]

RS ID: 61750614 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6103655

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGTCTCTGTTCCTTACGTGGGTGGGAACATGGAAGTCAACGTTTATGGTGCCATCATGCATGAGGTCAGATTCAATCACCTTGGT
CACATCTTCACAT -/T CACTCCACAAAACAATGAGTTCCAACTGCAGCTCAGCCCCAAGACTTTTGCTTCAAAGACGTATGGTCTGTG
TGGGATCTGTGATGAGAACGGAGCCAAT-3'

[Top]

RS ID: 61750613 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6105290

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCGTGTGCACAGGCAGCTCCACTCGGCACATCGTGACCTTTGATGGGCAGAATTTCAAGCTGACTGGCAGCTGTTCTTATGTCCT
ATTTCAAAACAAG G/T AGCAGGACCTGGAGGTGATTCTCCATAATGGTGCCTGCAGCCCTGGAGCAAGGCAGGGCTGCATGAAATCCA
TCGAGGTGAAGCACAGTGCCCTCTCCGT-3'

[Top]

RS ID: 61750612 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6122710

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGACAGTGTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGGCGACTCCAACGT
GGTGAAGCTCCAG C/T GAATCGAAGACCTCCCTACCATGGTCACCTTGGGCAATTCCTTCCTCCACAAACTGTGCTCTGGATTTGTTA
GGATTTGCATGGATGAGGATGGGAATGA-3'

[Top]

RS ID: 61750611 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6122722

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGTCCAACAGAGTGACAGTGTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGG
CGACTCCAACGTG A/G TGAAGCTCCAGCGAATCGAAGACCTCCCTACCATGGTCACCTTGGGCAATTCCTTCCTCCACAAACTGTGCT
CTGGATTTGTTAGGATTTGCATGGATGA-3'

[Top]

RS ID: 61750610 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6122796

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACGTCTCTGTGGATTCAGTGGATGCAGCAGCTGATGCCGCCAGGTCCAACAGA
GTGACAGTGTTCC A/C TATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGGCGACTCCAACGT
GGTGAAGCTCCAGCGAATCGAAGACCTC-3'

[Top]

RS ID: 61750609 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6122802

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 V [Val] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCCGGGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACGTCTCTGTGGATTCAGTGGATGCAGCAGCTGATGCCGCCAGGTCC
AACAGAGTGACAG G/T GTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCCAGCAGGCGACTC
CAACGTGGTGAAGCTCCAGCGAATCGAA-3'

[Top]

RS ID: 61750608 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125257

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGCATGGTGCCAGGCCGGGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACGTCTCTGTGGATTCAGTGGATGCAGCAGCTGAT
GCCGCCAGGTCCA A/G CAGAGTGACAGTGTTCCCTATTGGAATTGGAGATCGCTACGATGCAGCCCAGCTACGGATCTTGGCAGGCCC
AGCAGGCGACTCCAACGTGGTGAAGCTC-3'

[Top]

RS ID: 61750606 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125375

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACGTGGTCCCGGAGAAAGCCCATTTGCTGAGCCTTGTGGACGTCATGCAGCGGGAGGGAGGCCCCAGCCAAATCGGGGATGCCTT
GGGCTTTGCTGTG C/T GATACTTGACTTCAGAAATGCATGGTGCCAGGCCGGGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACG
TCTCTGTGGATTCAGTGGATGCAGCAGC-3'

[Top]

RS ID: 61750605 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125389

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTGACGTGCCATGGAACGTGGTCCCGGAGAAAGCCCATTTGCTGAGCCTTGTGGACGTCATGCAGCGGGAGGGAGGCCCCAGCCAA
ATCGGGGATGCCT C/T GGGCTTTGCTGTGCGATACTTGACTTCAGAAATGCATGGTGCCAGGCCGGGAGCCTCAAAGGCGGTGGTCAT
CCTGGTCACGGACGTCTCTGTGGATTCA-3'

[Top]

RS ID: 61750604 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125715

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCACTCAGGTGTCAGTGCTGCAGTATGGAAGCATCACCACCATTGACGTGCCATGGAACGTGGTCCCGGAGAAAGCCCATTTGCT
GAGCCTTGTGGAC A/G TCATGCAGCGGGAGGGAGGCCCCAGCCAAATCGGGGATGCCTTGGGCTTTGCTGTGCGATACTTGACTTCAG
AAATGCATGGTGCCAGGCCGGGAGCCTC-3'

[Top]

RS ID: 61750603 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125802

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 S [Ser] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCTCCTCCAGTTTCCCAGCTTCTTATTTTGATGAAATGAAGAGTTTCGCCAAGGCTTTCATTTCAAAAGCCAATATAGGGCCTCG
TCTCACTCAGGTG A/T CAGTGCTGCAGTATGGAAGCATCACCACCATTGACGTGCCATGGAACGTGGTCCCGGAGAAAGCCCATTTGC
TGAGCCTTGTGGACGTCATGCAGCGGGA-3'

[Top]

RS ID: 61750602 Link_out

Alleles: -/TT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6125812

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTCCTGGATGGCTCCTCCAGTTTCCCAGCTTCTTATTTTGATGAAATGAAGAGTTTCGCCAAGGCTTTCATTTCAAAAGCCAATA
TAGGGCCTCGTCT -/TT CACTCAGGTGTCAGTGCTGCAGTATGGAAGCATCACCACCATTGACGTGCCATGGAACGTGGTCCCGGAGA
AAGCCCATTTGCTGAGCCTTGTGGACGTC-3'

[Top]

RS ID: 61750599 Link_out

Alleles: CT/TA

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127560

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 L [Leu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGACCTGGTGCTGCAGAGGTGCTG
CTCCGGAGAGGGG CT/TA GCAGATCCCCACCCTCTCCCCTGCACCTGACTGCAGCCAGCCCCTGGACGTGATCCTTCTCCTGGATGGC
TCCTCCAGTTTCCCAGCTTCTTATTTTGAT-3'

[Top]

RS ID: 61750598 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127570

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGACCTGGTGCTGCA
GAGGTGCTGCTCC A/G GAGAGGGGCTGCAGATCCCCACCCTCTCCCCTGCACCTGACTGCAGCCAGCCCCTGGACGTGATCCTTCTCC
TGGATGGCTCCTCCAGTTTCCCAGCTTC-3'

[Top]

RS ID: 61750590 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127642

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGG
CTGGCCCAATGCC C/T CTATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGACCTGGTGCTGCAGAGGTGCTGCTCCG
GAGAGGGGCTGCAGATCCCCACCCTCTC-3'

[Top]

RS ID: 61750589 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127668

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAATGCC
AACGTGCAGGAGC C/T GGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTCCTGA
CCTGGTGCTGCAGAGGTGCTGCTCCGGA-3'

[Top]

RS ID: 61750588 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127672

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAA
TGCCAACGTGCAG A/G AGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGACTTTGAGACGCTCCCCCGAGAGGCTC
CTGACCTGGTGCTGCAGAGGTGCTGCTC-3'

[Top]

RS ID: 61750587 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127695

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 V [Val] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTG
GTGCCCATTGGAG A/T GGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGACTT
TGAGACGCTCCCCCGAGAGGCTCCTGAC-3'

[Top]

RS ID: 61750586 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127698

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAG
GTGGTGCCCATTG -/G AGTGGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGGA
CTTTGAGACGCTCCCCCGAGAGGCTCCT-3'

[Top]

RS ID: 61750585 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127699

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCA
GGTGGTGCCCATT A/G GAGTGGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCAGG
ACTTTGAGACGCTCCCCCGAGAGGCTCC-3'

[Top]

RS ID: 61750584 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127701

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 I [Ile] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATC
CAGGTGGTGCCCA C/T TGGAGTGGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCATCCA
GGACTTTGAGACGCTCCCCCGAGAGGCT-3'

[Top]

RS ID: 61750583 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127704

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGAC
ATCCAGGTGGTGC A/C CATTGGAGTGGGCCCTAATGCCAACGTGCAGGAGCTGGAGAGGATTGGCTGGCCCAATGCCCCTATCCTCAT
CCAGGACTTTGAGACGCTCCCCCGAGAG-3'

[Top]

RS ID: 61750582 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127743

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGA
AATCCTGCCTCTG A/G TGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAATGCCAACGTGCAGGA
GCTGGAGAGGATTGGCTGGCCCAATGCC-3'

[Top]

RS ID: 61750581 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127747

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCAC
CGGAAATCCTGCC C/T CTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTAATGCCAACGTGC
AGGAGCTGGAGAGGATTGGCTGGCCCAA-3'

[Top]

RS ID: 61750580 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127759

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGT
CTACATGGTCACC A/G GAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGCCCTA
ATGCCAACGTGCAGGAGCTGGAGAGGAT-3'

[Top]

RS ID: 61750579 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127764

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 V [Val] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAAC
CTGGTCTACATGG A/T CACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGG
CCCTAATGCCAACGTGCAGGAGCTGGAG-3'

[Top]

RS ID: 61750578 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127774

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCA
GGCGCCCAACCTG G/T TCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCA
TTGGAGTGGGCCCTAATGCCAACGTGCA-3'

[Top]

RS ID: 61750577 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6127794

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTC
AGCCAGGGTGACC A/G GGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGG
AGACATCCAGGTGGTGCCCATTGGAGTG-3'

[Top]

RS ID: 61750117 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6127795

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGT
CAGCCAGGGTGAC C/G GGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTG
GAGACATCCAGGTGGTGCCCATTGGAGT-3'

[Top]

RS ID: 61750116 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127837

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACAC
TGGGCTGGCCCTG C/T GGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGG
TCACCGGAAATCCTGCCTCTGATGAGAT-3'

[Top]

RS ID: 61750115 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127845

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCGTGGAGTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGG
ACCAACACTGGGC C/T GGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGT
CTACATGGTCACCGGAAATCCTGCCTCT-3'

[Top]

RS ID: 61750114 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127846

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 L [Leu] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCGTGGAGTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAG
GACCAACACTGGG C/G TGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGG
TCTACATGGTCACCGGAAATCCTGCCTC-3'

[Top]

RS ID: 61750113 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127849

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGACCGTGGAGTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAA
CAGGACCAACACT A/G GGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACC
TGGTCTACATGGTCACCGGAAATCCTGC-3'

[Top]

RS ID: 61750112 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127888

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACCGTGGAGTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACAT
CCTGCAGCGGGTG C/T GAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCT
TCTTGGTCAGCCAGGGTGACCGGGAGCA-3'

[Top]

RS ID: 61750111 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127899

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACCGTGGAGTACCCCTTCAGCGAGGCACAGTCC
AAAGGGGACATCC C/T GCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTCTC
TGACCACAGCTTCTTGGTCAGCCAGGGT-3'

[Top]

RS ID: 61750110 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6127917

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 Q [Gln] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGTGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACCGTGGAGTACCCC
TTCAGCGAGGCAC A/G GTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCT
GGCCCTGCGGTACCTCTCTGACCACAGC-3'

[Top]

RS ID: 61750103 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128014

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGAGGAACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGA
GTTCATGGAGGAG -/G TGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACCG
TGGAGTACCCCTTCAGCGAGGCACAGTC-3'

[Top]

RS ID: 61750102 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128032

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGA
CTTCAACAGGAGC A/G AGGAGTTCATGGAGGAGGTGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGT
ACTCCTACATGGTGACCGTGGAGTACCC-3'

[Top]

RS ID: 61750101 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128043

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 F [Phe] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATT
GGTGAAGCCGACT G/T CAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCAC
GGTGCTGCAGTACTCCTACATGGTGACC-3'

[Top]

RS ID: 61750100 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128067

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCGTTC
GTCCTGGAAGGAT C/T GGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGCGGATGGATGT
GGGCCAGGACAGCATCCACGTCACGGTG-3'

[Top]

RS ID: 61750099 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128070

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 G [Gly] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCG
TTCGTCCTGGAAG A/G ATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGCGGATGGA
TGTGGGCCAGGACAGCATCCACGTCACG-3'

[Top]

RS ID: 61750098 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128071

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGC
GTTCGTCCTGGAA C/G GATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGCGGATGG
ATGTGGGCCAGGACAGCATCCACGTCAC-3'

[Top]

RS ID: 61750097 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128076

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGAT
GTGGCGTTCGTCC A/T GGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGCG
GATGGATGTGGGCCAGGACAGCATCCAC-3'

[Top]

RS ID: 61750096 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128085

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 A [Ala] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATG
GTTCTGGATGTGG A/C GTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGT
GATTCAGCGGATGGATGTGGGCCAGGAC-3'

[Top]

RS ID: 61750095 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128131

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCC
GGGGCTCTTGGGG -/G TTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAA
TTGGTGAAGCCGACTTCAACAGGAGCAA-3'

[Top]

RS ID: 61750094 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128161

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCC
CCCCCACATGGCA C/T AAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGTTCTGGATG
TGGCGTTCGTCCTGGAAGGATCGGACAA-3'

[Top]

RS ID: 61750093 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128168

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTA
CTCTGCCCCCCCA -/G CATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGGT
TCTGGATGTGGCGTTCGTCCTGGAAGGA-3'

[Top]

RS ID: 61750092 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128170

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCT
ACTCTGCCCCCCC -/C ACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGGAACTCCATGG
TTCTGGATGTGGCGTTCGTCCTGGAAGG-3'

[Top]

RS ID: 61750091 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128185

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCC
TGAAGCCCCTCCT C/T CTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCA
AGAGGAACTCCATGGTTCTGGATGTGGC-3'

[Top]

RS ID: 61750090 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128200

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 P [Pro] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCT
CTGTGACCTTGCC C/G CTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTT
CGACCCTGGGGCCCAAGAGGAACTCCAT-3'

[Top]

RS ID: 61750089 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128202

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 A [Ala] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTAC
CTCTGTGACCTTG A/C CCCTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGT
TTCGACCCTGGGGCCCAAGAGGAACTCC-3'

[Top]

RS ID: 61750088 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128206

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 L [Leu] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAG
CTACCTCTGTGAC C/G TTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGG
GGGTTTCGACCCTGGGGCCCAAGAGGAA-3'

[Top]

RS ID: 61750087 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128211

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATC
GTTAGCTACCTCT A/G TGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCGGGGCT
CTTGGGGGTTTCGACCCTGGGGCCCAAG-3'

[Top]

RS ID: 61750086 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128216

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACG
AGATCGTTAGCTA A/C CTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCCCCCACATGGCACAAGTCACTGTGGGCCCG
GGGCTCTTGGGGGTTTCGACCCTGGGGC-3'

[Top]

RS ID: 61750085 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128245

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGGGCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAG
TGTGGATGAGCTG C/G AGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGCCCCTCCTCCTACTCTGCCCC
CCCACATGGCACAAGTCACTGTGGGCCC-3'

[Top]

RS ID: 61750084 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128275

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGC
CCCTGAGAACAAG A/G CCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTG
CCCCTGAAGCCCCTCCTCCTACTCTGCC-3'

[Top]

RS ID: 61750083 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128311

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 I [Ile] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATGC
CAACCTCAAGCAG A/T TCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGC
AAAGGGACGAGATCGTTAGCTACCTCTG-3'

[Top]

RS ID: 61750082 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128321

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 N [Asn] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGGGCATTG
GGCCCCATGCCAA C/G CTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAG
CTGGAGCAGCAAAGGGACGAGATCGTTA-3'

[Top]

RS ID: 61750081 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128337

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 I [Ile] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATTGTG
ATCCCGGTGGGCA A/T TGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCT
GAGCAGTGTGGATGAGCTGGAGCAGCAA-3'

[Top]

RS ID: 61750080 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128340

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 G [Gly] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATT
GTGATCCCGGTGG A/G CATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGT
GCTGAGCAGTGTGGATGAGCTGGAGCAG-3'

[Top]

RS ID: 61750079 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128346

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAG
GTCATTGTGATCC C/T GGTGGGCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGC
CTTCGTGCTGAGCAGTGTGGATGAGCTG-3'

[Top]

RS ID: 61750078 Link_out

Alleles: -/AAG

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128369

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 KK / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTA
CGTCCAGGGCCTG -/AAG AAGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCG
AGAAGCAGGCCCCTGAGAACAAGGCCTTCG-3'

[Top]

RS ID: 61750077 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128389

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTC
CCGGAACTTTGTC C/T GCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATGCCAACCTCA
AGCAGATCCGCCTCATCGAGAAGCAGGC-3'

[Top]

RS ID: 61750075 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128436

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCC
CGCATCGCCCTGC C/T CCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAA
GAAGGTCATTGTGATCCCGGTGGGCATT-3'

[Top]

RS ID: 61750074 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128449

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCG
CCCTGAAGCCTCC C/T GCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGG
GCCTGAAGAAGAAGAAGGTCATTGTGAT-3'

[Top]

RS ID: 61750073 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128451

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGAC
CGCCCTGAAGCCT C/T CCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCA
GGGCCTGAAGAAGAAGAAGGTCATTGTG-3'

[Top]

RS ID: 61750072 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128463

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTC
AGCAAGATCGACC A/G CCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGT
CCGCTACGTCCAGGGCCTGAAGAAGAAG-3'

[Top]

RS ID: 61750071 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128464

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTT
CAGCAAGATCGAC A/C GCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTG
TCCGCTACGTCCAGGGCCTGAAGAAGAA-3'

[Top]

RS ID: 61750070 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128469

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 I [Ile] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAA
ATCTTCAGCAAGA G/T CGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAA
CTTTGTCCGCTACGTCCAGGGCCTGAAG-3'

[Top]

RS ID: 61750069 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128479

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 F [Phe] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACAC
ACTGTTCCAAATC A/T TCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAGGAGCCCCAACGGA
TGTCCCGGAACTTTGTCCGCTACGTCCA-3'

[Top]

RS ID: 61750068 Link_out

Alleles: -/AC

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128491

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGG
TCTTGAAATACAC -/AC TGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGCCAGCCAG
GAGCCCCAACGGATGTCCCGGAACTTTGT-3'

[Top]

RS ID: 61750067 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128499

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 K [Lys] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACC
AGCGAGGTCTTGA A/C ATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGATGGC
CAGCCAGGAGCCCCAACGGATGTCCCGG-3'

[Top]

RS ID: 61749408 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128502

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCC
ACCAGCGAGGTCT C/T GAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGCTCCTGAT
GGCCAGCCAGGAGCCCCAACGGATGTCC-3'

[Top]

RS ID: 61749407 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128509

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGT
GGCCTCCACCAGC A/G AGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATCGCCCTGC
TCCTGATGGCCAGCCAGGAGCCCCAACG-3'

[Top]

RS ID: 61749405 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128548

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCG
GCGCATTGCCAGC C/T AGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCA
GCAAGATCGACCGCCCTGAAGCCTCCCG-3'

[Top]

RS ID: 61749404 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128560

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACC
GTCAGAGCTGCGG C/T GCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACTGT
TCCAAATCTTCAGCAAGATCGACCGCCC-3'

[Top]

RS ID: 61749403 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128562

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGA
CCGTCAGAGCTGC A/G GCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACACT
GTTCCAAATCTTCAGCAAGATCGACCGC-3'

[Top]

RS ID: 61749402 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128563

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCG
ACCGTCAGAGCTG C/T GGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAAATACACAC
TGTTCCAAATCTTCAGCAAGATCGACCG-3'

[Top]

RS ID: 61749401 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128571

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGAC
CGGAAGCGACCGT C/G AGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTTGAA
ATACACACTGTTCCAAATCTTCAGCAAG-3'

[Top]

RS ID: 61749400 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128574

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAG
GACCGGAAGCGAC C/T GTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTCCACCAGCGAGGTCTT
GAAATACACACTGTTCCAAATCTTCAGC-3'

[Top]

RS ID: 61749399 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128613

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 G [Gly] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTG
GAGTACCACGACG C/G CTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAA
GTATGCGGGCAGCCAGGTGGCCTCCACC-3'

[Top]

RS ID: 61749398 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128614

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGT
GGAGTACCACGAC A/G GCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGA
AGTATGCGGGCAGCCAGGTGGCCTCCAC-3'

[Top]

RS ID: 61749397 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128638

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCA
GAAGTGGGTCCGC A/G TGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGC
TGCGGCGCATTGCCAGCCAGGTGAAGTA-3'

[Top]

RS ID: 61749396 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128640

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCC
CAGAAGTGGGTCC A/G CGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGA
GCTGCGGCGCATTGCCAGCCAGGTGAAG-3'

[Top]

RS ID: 61749395 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128641

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTC
CCAGAAGTGGGTC C/T GCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAG
AGCTGCGGCGCATTGCCAGCCAGGTGAA-3'

[Top]

RS ID: 61749394 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128643

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 V [Val] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATC
TCCCAGAAGTGGG A/T CCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTC
AGAGCTGCGGCGCATTGCCAGCCAGGTG-3'

[Top]

RS ID: 61749393 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128644

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCAT
CTCCCAGAAGTGG C/G TCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCGT
CAGAGCTGCGGCGCATTGCCAGCCAGGT-3'

[Top]

RS ID: 61749392 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128645

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 W [Trp] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCA
TCTCCCAGAAGTG C/G GTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCGGAAGCGACCG
TCAGAGCTGCGGCGCATTGCCAGCCAGG-3'

[Top]

RS ID: 61749390 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128655

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAG
CGGCTGCGCATCT C/T CCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGGACCG
GAAGCGACCGTCAGAGCTGCGGCGCATT-3'

[Top]

RS ID: 61749389 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128659

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGAT
GGAGCGGCTGCGC A/G TCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAAGG
ACCGGAAGCGACCGTCAGAGCTGCGGCG-3'

[Top]

RS ID: 61749388 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128661

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATG
ATGGAGCGGCTGC A/G CATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCAA
GGACCGGAAGCGACCGTCAGAGCTGCGG-3'

[Top]

RS ID: 61749387 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128662

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACAT
GATGGAGCGGCTG C/T GCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCTCA
AGGACCGGAAGCGACCGTCAGAGCTGCG-3'

[Top]

RS ID: 61749386 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128664

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGAC
ATGATGGAGCGGC C/T GCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGGGCT
CAAGGACCGGAAGCGACCGTCAGAGCTG-3'

[Top]

RS ID: 61749385 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128667

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTG
GACATGATGGAGC A/G GCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCGG
GCTCAAGGACCGGAAGCGACCGTCAGAG-3'

[Top]

RS ID: 61749384 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128668

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGT
GGACATGATGGAG C/T GGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCTACATCG
GGCTCAAGGACCGGAAGCGACCGTCAGA-3'

[Top]

RS ID: 61749383 Link_out

Alleles: -/ATG

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128671

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 M [Met] / IW

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGT
GGTGGACATGATG -/ATG GAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCACGCCT
ACATCGGGCTCAAGGACCGGAAGCGACCGT-3'

[Top]

RS ID: 61749382 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128679

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAG
GCCTTTGTGGTGG A/G CATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCA
CGCCTACATCGGGCTCAAGGACCGGAAG-3'

[Top]

RS ID: 61749381 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128697

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCT
GAGTTTGAAGTGC C/T GAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGA
GTACCACGACGGCTCCCACGCCTACATC-3'

[Top]

RS ID: 61749380 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128730

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 S [Ser] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTC
CTGCTGGATGGCT C/T CTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCAT
CTCCCAGAAGTGGGTCCGCGTGGCCGTG-3'

[Top]

RS ID: 61749379 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128731

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTT
CCTGCTGGATGGC C/T CCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCA
TCTCCCAGAAGTGGGTCCGCGTGGCCGT-3'

[Top]

RS ID: 61749378 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128739

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGAC
CTGGTCTTCCTGC G/T GGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGATGGAGCG
GCTGCGCATCTCCCAGAAGTGGGTCCGC-3'

[Top]

RS ID: 61749377 Link_out

Alleles: -/TCCTGCT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128738

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / LLL

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAGGCTACTGGACC
TGGTCTTCCTGCT -/TCCTGCT GGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACATGAT
GGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGC-3'

[Top]

RS ID: 61749376 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128749

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCAGCAG
GCTACTGGACCTG A/G TCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTGGACA
TGATGGAGCGGCTGCGCATCTCCCAGAA-3'

[Top]

RS ID: 61749375 Link_out

Alleles: -/CCT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128751

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 DL / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTACTGCA
GCAGGCTACTGGA -/CCT GGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGTGGTG
GACATGATGGAGCGGCTGCGCATCTCCCAG-3'

[Top]

RS ID: 61749374 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128757

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTTGCACGATTTCTAC
TGCAGCAGGCTAC C/T GGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGCTGAAGGCCTTTGT
GGTGGACATGATGGAGCGGCTGCGCATC-3'

[Top]

RS ID: 61749372 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128770

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTCGGAACCGCCGTT
GCACGATTTCTAC C/T GCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTGAGTTTGAAGTGC
TGAAGGCCTTTGTGGTGGACATGATGGA-3'

[Top]

RS ID: 61749371 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128782

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 H [His] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAAGCCTGCCAGGAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGACATCTC
GGAACCGCCGTTG A/C ACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGAGGCTG
AGTTTGAAGTGCTGAAGGCCTTTGTGGT-3'

[Top]

RS ID: 61749370 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128787

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCTGTGAAGCCTGCCAGGAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCCCGGTGAGCCCCACCACTCTGTATGTGGAGGAC
ATCTCGGAACCGC A/C GTTGCACGATTTCTACTGCAGCAGGCTACTGGACCTGGTCTTCCTGCTGGATGGCTCCTCCAGGCTGTCCGA
GGCTGAGTTTGAAGTGCTGAAGGCCTTT-3'

[Top]

RS ID: 61749366 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128905

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAAGACTGTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCTTGAATCCCAGTGACCCTGAGCACTG
CCAGATTTGCCAC C/T GTGATGTTGTCAACCTCACCTGTGAAGCCTGCCAGGAGCCGGGAGGCCTGGTGGTGCCTCCCACAGATGCCC
CGGTGAGCCCCACCACTCTGTATGTGGA-3'

[Top]

RS ID: 61749365 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6131154

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTGGCCTGCCCTGTGCAGTGTGTGGAGGGCTGCCATGCCCACTGCCCTCCAGGGAAAATCCTGGATGAGCTTTTGCAGACCTGCGT
TGACCCTGAAGAC C/T GTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCTTGAATCCCAGTGACCCTG
AGCACTGCCAGATTTGCCACTGTGATGT-3'

[Top]

RS ID: 61749364 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6131172

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTCAGCACCCTGAGCCACTGGCCTGCCCTGTGCAGTGTGTGGAGGGCTGCCATGCCCACTGCCCTCCAGGGAAAATCCTGGATGA
GCTTTTGCAGACC C/T GCGTTGACCCTGAAGACTGTCCAGTGTGTGAGGTGGCTGGCCGGCGTTTTGCCTCAGGAAAGAAAGTCACCT
TGAATCCCAGTGACCCTGAGCACTGCCA-3'

[Top]

RS ID: 61749363 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6131202

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAACAGCTGTGCACCTGCCTGTCAAGTCACGTGTCAGCACCCTGAGCCACTGGCCTGCCCTGTGCAGTGTGTGGAGGGCTGCCATGC
CCACTGCCCTCCA A/G GGAAAATCCTGGATGAGCTTTTGCAGACCTGCGTTGACCCTGAAGACTGTCCAGTGTGTGAGGTGGCTGGCC
GGCGTTTTGCCTCAGGAAAGAAAGTCAC-3'

[Top]

RS ID: 61748497 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6134790

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGAGCTCGCAGTGTGCTGACACCAGAAAAGTGCCTCTGGACTCATCCCCTGCCACCTGCCATAACAACATCATGAAGCAGACGAT
GGTGGATTCCTCC C/T GTAGAATCCTTACCAGTGACGTCTTCCAGGACTGCAACAAGCTGGTGGACCCCGAGCCATATCTGGATGTCT
GCATTTACGACACCTGCTCCTGTGAGTC-3'

[Top]

RS ID: 61748496 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6134809

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTTGGGAACTCCTGGAAAGTGAGCTCGCAGTGTGCTGACACCAGAAAAGTGCCTCTGGACTCATCCCCTGCCACCTGCCATAACA
ACATCATGAAGCA G/T ACGATGGTGGATTCCTCCTGTAGAATCCTTACCAGTGACGTCTTCCAGGACTGCAACAAGCTGGTGGACCCC
GAGCCATATCTGGATGTCTGCATTTACG-3'

[Top]

RS ID: 61748493 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6135194

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATTCTGCTGCTGGGCAAAGCCCTCTCCGTGGTCTGGGACCGCCACCTGAGCATCTCCGTGGTCCTGAAGCAGACATACCAGGAGAA
AGTGTGTGGCCTG G/T GTGGGAATTTTGATGGCATCCAGAACAATGACCTCACCAGCAGCAACCTCCAAGTGGAGGAAGACCCTGTGG
ACTTTGGGAACTCCTGGAAAGTGAGCTC-3'

[Top]

RS ID: 61748491 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6140660

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTACGTTCTGGTGCAGGATTACTGCGGCAGTAACCCTGGGACCTTTCGGATCCTAGTGGGGAATAAGGGATGCAGCCACCCCTCAGT
GAAATGCAAGAAA C/T GGGTCACCATCCTGGTGGAGGGAGGAGAGATTGAGCTGTTTGACGGGGAGGTGAATGTGAAGAGGCCCATGA
AGGATGAGACTCACTTTGAGGTGGTGGA-3'

[Top]

RS ID: 61748490 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6140695

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 K [Lys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACGGGCTCAAATACCTGTTCCCCGGGGAGTGCCAGTACGTTCTGGTGCAGGATTACTGCGGCAGTAACCCTGGGACCTTTCGGATC
CTAGTGGGGAATA -/T AGGGATGCAGCCACCCCTCAGTGAAATGCAAGAAACGGGTCACCATCCTGGTGGAGGGAGGAGAGATTGAGC
TGTTTGACGGGGAGGTGAATGTGAAGAG-3'

[Top]

RS ID: 61748486 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6143898

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTTGTGTCTGTCGGGACCGGAAGTGGAACTGCACAGACCATGTGTGTGATGCCACGTGCTCCACGATCGGCATGGCCCACTACCT
CACCTTCGACGGG -/C TCAAATACCTGTTCCCCGGGGAGTGCCAGTACGTTCTGGTGCAGGATTACTGCGGCAGTAACCCTGGGACCT
TTCGGATCCTAGTGGGGAATAAGGGATG-3'

[Top]

RS ID: 61748485 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6143904

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCAACACTTGTGTCTGTCGGGACCGGAAGTGGAACTGCACAGACCATGTGTGTGATGCCACGTGCTCCACGATCGGCATGGCCCA
CTACCTCACCTTC A/G ACGGGCTCAAATACCTGTTCCCCGGGGAGTGCCAGTACGTTCTGGTGCAGGATTACTGCGGCAGTAACCCTG
GGACCTTTCGGATCCTAGTGGGGAATAA-3'

[Top]

RS ID: 61748484 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6143966

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAGGTGTCCCTGCTTCCATCAGGGCAAGGAGTATGCCCCTGGAGAAACAGTGAAGATTGGCTGCAACACTTGTGTCTGTCGGGAC
CGGAAGTGGAACT G/T CACAGACCATGTGTGTGATGCCACGTGCTCCACGATCGGCATGGCCCACTACCTCACCTTCGACGGGCTCAA
ATACCTGTTCCCCGGGGAGTGCCAGTAC-3'

[Top]

RS ID: 61748479 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153501

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 M [Met] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTA
TGACCTGGAGTGC A/G TGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCCCCCCGGGCATGGTCCGGCATGAGAACAGATGTGTGGCCC
TGGAAAGGTGTCCCTGCTTCCATCAGGG-3'

[Top]

RS ID: 61748478 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153515

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 Y [Tyr] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGCTGAAGGGCTCGAGTGTACCAAA
ACGTGCCAGAACT A/G TGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCCCCCCGGGCATGGTCCGGCATGAGAA
CAGATGTGTGGCCCTGGAAAGGTGTCCC-3'

[Top]

RS ID: 61748477 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153527

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGCTGAAGGGCTC
GAGTGTACCAAAA C/T GTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCCCCCCGGGCATGGT
CCGGCATGAGAACAGATGTGTGGCCCTG-3'

[Top]

RS ID: 61748476 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153536

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGCT
GAAGGGCTCGAGT A/G TACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCCCCCC
GGGCATGGTCCGGCATGAGAACAGATGT-3'

[Top]

RS ID: 61748475 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153537

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 C [Cys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGC
TGAAGGGCTCGAG C/T GTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCCCCC
CGGGCATGGTCCGGCATGAGAACAGATG-3'

[Top]

RS ID: 61748474 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153540

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCAGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCG
GGCTGAAGGGCTC A/G AGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTCTGCC
CCCCGGGCATGGTCCGGCATGAGAACAG-3'

[Top]

RS ID: 61748473 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153545

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 G [Gly] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCCTCAGCAGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAAC
CTGCGGGCTGAAG A/G GCTCGAGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCT
CTGCCCCCCGGGCATGGTCCGGCATGAG-3'

[Top]

RS ID: 61748472 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153554

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGACGCTGTCCTCAGCAGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCC
GCTGACAACCTGC A/G GGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCTC
TGGCTGCCTCTGCCCCCCGGGCATGGTC-3'

[Top]

RS ID: 61748471 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6153555

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTGACGCTGTCCTCAGCAGTCCCCTGTCTCATCGCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCC
CGCTGACAACCTG C/T GGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGGGCTGTGTCT
CTGGCTGCCTCTGCCCCCCGGGCATGGT-3'

[Top]

RS ID: 61748466 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6155892

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCATGTGCTACTGTGAGGATGGCTTCATGCACTGTACCATGAGTGGAGTCCCCGGAAGCTTGCTGCCTGACGCTGTCCTCAGCAG
TCCCCTGTCTCAT C/T GCAGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACCTGCGGGCTG
AAGGGCTCGAGTGTACCAAAACGTGCCA-3'

[Top]

RS ID: 61748464 Link_out

Alleles: -/CT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6161770

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGATGAGGAATGCAATGAGGCCTGCCTGGAGGGCTGCTTCTGCCCCCCAGGGCTCTACATGGATGAGAGGGGGGACTGCGTGCCCA
AGGCCCAGTGCCC -/CT GTTACTATGACGGTGAGATCTTCCAGCCAGAAGACATCTTCTCAGACCATCACACCATGTGCTACTGTGAG
GATGGCTTCATGCACTGTACCATGAGTGG-3'

[Top]

RS ID: 61748463 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6161779

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTTACCCGGATGAGGAATGCAATGAGGCCTGCCTGGAGGGCTGCTTCTGCCCCCCAGGGCTCTACATGGATGAGAGGGGGGACTG
CGTGCCCAAGGCC C/T AGTGCCCCTGTTACTATGACGGTGAGATCTTCCAGCCAGAAGACATCTTCTCAGACCATCACACCATGTGCT
ACTGTGAGGATGGCTTCATGCACTGTAC-3'

[Top]

RS ID: 61748462 Link_out

Alleles: -/CTCT

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6161876

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGTCGCGTGGCGCGAGCCAGGCCGCTGTGAGCTGAACTGCCCGAAAGGCCAGGTGTACCTGCAGTGCGGGACCCCCTGCAACCTGA
CCTGCCGCTCTCT -/CTCT TACCCGGATGAGGAATGCAATGAGGCCTGCCTGGAGGGCTGCTTCTGCCCCCCAGGGCTCTACATGGAT
GAGAGGGGGGACTGCGTGCCCAAGGCCCAGT-3'

[Top]

RS ID: 61731159 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6101045

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTCCATCCTCACCAATGCACTGAGTGCAGGCCTCTTCAGGGACACAGCT C/T CCTTCCAACATGACTTTATCTGGAGGGCAGAA
ACAGCCTTCGGAGGGATG-3'

[Top]

RS ID: 57950734 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6145649

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 H [His] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCACAGGGGGCTGGAGGCAAGTGCGGAAGGTCCTGTGGCCGCGTGCACCCTCACTCCACCCGCAGGGCCTGGGTCCCCGGCGCAG
CCCCTCACTGAGCCTCACCAAGTGTTGCAGCCAATCTTCACTGTTTCTCCAGGGGCATACTCCTTGCCCTGATGGAAGCAGGGACACCTT
TCCAGGGCCACACATCTGTTCTC A/T TGCCGGACCTAAGAGAAAAGAATCCAAAAGTCCTCAGGGCCACAGTGACTGATCTAAAGCCC
TCCTCCAGCCCGCTCCAGGAAGTGTTGTCTGAGACTTGAGCCTACGGGTAAGCCCAGCACTGGGACTGGCACCAGGACCAGGGCTGAGCC
AGGGGGACAGCTTCCACTGCAGGCCAAGCCAGGACAGGGATCCTATGC-3'

[Top]

RS ID: 56981471 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6120958

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGCTGGAGAAGCAAAGGACTCACAGGGGCAGGTCCAGCGGCAGCCACAGGTCTCTTCCACTTTAACAGGGGACTGGCTGTTAGGG
CACGAAGGCCTCAGCCCCCGGTCACAGTTGACCCGATGACTCTTCAGCAAGGTCTGGCCATCTGGCTGGCAAGTCACGGTGTGGCACTGG
TCTGGCAAGGTCCAGACGTCCCC A/G GGCTGCAGAAGAAAACAGCAGATTCAGGCAGGGAATAAGATGAGGTACTCCAACTCTAAGCC
CATCTGCCAGACAACTGACCCCTAGAATTGAACACAGGCCTACACAGCAAGGAGGCCCCCTGTACATGAGACAGGAAGCAAAACACAAGA
TGTACAGATGGACCCGCAAAAACAAGATAATAGTAAAAGGAAGCACTG-3'

[Top]

RS ID: 55944252 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6085370

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACTGCAGAAGGATGACGCAGAAATCCTTTGCTCATGCTTTTTCTTCTTACCCAGCCCTAACCCCCTCCCTCTTCCTCACCCCTAGC
CTTGAACCAGAGGTCACTAAAGAACCTTTCTTGCCCTTCCTCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGC
ACTCCAGCCTGGGCGACAGAGCGAGTCTCCATTTCAAAAAAAAAAGAACCTTTCTTACCCTTCCTAAGATGCCCTCCTCTACTTTCCCGC
TCTGATAGCTGCAGGCATGCCCAGCCCCTGCCCCACTCACCGACCGACAGCTGTCCTCACAGGGCTTCTGGGAGCACTGGGCCACGCGGA
GGCCCATCACGGCATCCTCCATGTCGGTGCAGGTGCACACATC A/G CAGCCCTCCTCCCAGAACTGGCCCACAGGGTAGATGGTGCTT
CGGTGGACACACACCTGTAGACATAAGTTTTCGTGAGTGAACTCATTTGTTTCATTGAAACAAGCGGTGAGTTAGCACCTACTACACAGA
AGCCGCTCTAAGTGCTGAGAATGTGGCAATAAATAAAACCAAATGTGGTCTCCGCCCATATGCAGGGCTGCTTATAAAGCAGATTTCGTC
CTCCTCCTTTCCCTGCCCACCAGCCTTAGAAAAGCTATGACCAGTCTCTCAGGGGTGGCCCCTCGTGAGGCCTTCATGGTCCCACAGACT
TGAATACAACACACTGGCTGCCTTGGTCTCCCTTCTTCCTGCCTTAACTGCACTTCACTCCTTCCTATGTCACCGAGAAGCTGTACCC-3
'

[Top]

RS ID: 55784921 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6103738

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGTCATTGGCTCCGTTCTCATCACAGATCCCTAGAGAAACAAACAAACAAAAAAAAGATAAACTGAGTGGCCCTGGGTACAAAAA
CATTGATGCCAGAGACAGGCCATTCTTGATCCTCACCAGAATCTGACCCTCGCTACTAGACCCTGAAATATAAGCATCCAAGAGCCTCAG
AGTAGAGCAAGTAAGGTTTATAAATGTATAGCAGGGGGAGAAGAGGAGTTGAGAAAATGTTCTTACCACACAGACCATACGTCTTTGAAG
CAAAAGTCTTGGGGCTGAGCTGCAGTTGGAACTCATTGTTTTGTGGAGTGAATGTGAAGATGTGACCAAGGTGATTGAATCTGACCTCAT
GCATGATGGCACCATAAACGTTGACTTCCATGTTCCCACCCAC A/G TAAGGAACAGAGACCAGTCTCCCATTCACCGTCACCTGCACA
AAGAAGAAAGAGCTCATCCGTAGTCCTAGCAATGAGGAATCCTAGGTTTTTAGGGAAGTTACCGAGAGTTCCTGCACATTCATCACACTC
AACTGCAACATCAGCCACAAACCTTGATATTTGTCGGCAGCTCTTCTAAGATAAAGAAGAGCTTGACTAGAAAACAGAGCTTGACTTTAC
AGAGCTTGACCAGAAAACAGGCTGTTGTAATACTGTACGGGTGGCCATGCACCAAGAACCTAAAAGCCTGGAGATTAAAAGGAACCTTGA
GTCTATGTGACTCAACAGGGAAGGGCAATGCCTTTAAGACAGGCTGGGAAAGTCGCCTTATTGCCAACTCATCAGAGCAGTGTCTCCA-3
'

[Top]

RS ID: 41276738 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6143978

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCAGTAGCCTTTCTCCCACACCAATCCTCAACAACAAACAAGCTTCTGTCTCGTTTTATAAGTCCCCAGGTGAGCAGAGGGAAAAT
GGACAACCACTTTGAGCTTCAAATCCCCTACCGCTTCAGGCACTTCTGTGAAGGACTGGGAAGTACTCCAGTAGAAACCAGACCCCAGAG
TTGTTTCTGCAGACAGATCCACAGAACCCAACCTGAGGCCACACCTCCCACCCCTCCTAGAAAGAAACAGCACCCTCTCCCCATCTCCCC
ACCTCTCACCTGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGGTAGTGGGCCATGCCGATCGT
GGAGCACGTGGCATCACACACATGGTCTGTGCAGTTCCACTTC C/T GGTCCTGACAGACACTAGGAGCAGTCATGGCAGAGATGACAA
GTTGGGCACCTTGGGTTTGAGGGGCCCATCTGGGCCATGGAGGCAATGAAGGAACACAGAATACTCTGGGTGCCTCCCAACCCTCCAGGA
AGCCCAAGGAAGTTGAGGACCTGTAGCGTGGAGTGTGGACTTCATAGGCCCAGTATGGTGCCCAGCAGGAGACAGGGAAGCCTAGTGGCT
GTCCCTAAAAGGGGGAAACTGAGGCAAAGAAGGGAAGGGGTTGTCCAAAGTGAGCCAGGCAGCCAGGGAGGAGGCCCGGATGCTCTTTAG
GCCTCCTGTTATGAATTCGCTCAGCCTCACCCTGAAAGCCACATCTACCTGAGATTGGCCACAGGGTGTCTGTAAAACAGACACACTG-3
'

[Top]

RS ID: 41276736 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6125716

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGACCACCGCCTTTGAGGCTCCCGGCCTGGCACCATGCATTTCTGAAGTCAAGTATCGCACAGCAAAGCCCAAGGCATCCCCTGA
GGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAAT
GATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGG
CCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCAC
CAACGTTACCGATTTGGCTGGGGCCTCCCTCCCGCTGCATGAC A/G TCCACAAGGCTCAGCAAATGGGCTTTCTCCGGGACCACGTTC
CATGGCACGTCAATGGTGGTGATGCTTCCATACTGCAGCACTGACACCTGAGTGAGACGAGGCCCTAAACGGAACGAGAAAATGCGGATT
ATTTTGAATCAAGTAGAGCCACAAAAAGAGCCTCTTCGTCACCTGCTGCTTCAGGTGCCTCGCTCACCCACCTATATTGGCTTTTGAAAT
GAAAGCCTTGGCGAAACTCTTCATTTCATCAAAATAAGAAGCTGGGAAACTGGAGGAGCCATCCAGGAGAAGGATCACGTCCAGGGGCTG
GCTGCAGTCTGCAAAGACAACCAGGAAGGTGAGCACACAGGTGCCAGCAGGGACAATGGCCACCAGGCCTACAACCTGACATCCAATA-3
'

[Top]

RS ID: 41276732 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6061593

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCTGAATTCTCTTCCAGTTGAGTCATCAGGATCTTCA
TTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACACTCAGCCTCCCTTAAGGAAAATATTTTTTTAAAAC
ATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACTGATTCTTCAACTAGGCCAGAGATGTGCCTCAGAC
ACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTAGAGATTGAGACAGTAAAGAGGAAAGCAGAATGAG
TACTCACTCCCTCAGCCAGACACTTGTGTTCATCAAAGGGTGG A/G CAGCCTGTGACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCA
TTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAAGGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTT
TGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAATCTGCAGAACCATGAAACAAGAAGACAGTGTATA
ATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTTGTATCCTATGAACAGGGCTGCTATGTAGACTCTT
CCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGCTGATAACTGAACTAGAGATGAACGAAGGGAACTA-3
'

[Top]

RS ID: 35879738 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167134

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGAAGAGCAAATGGCCCAGTTCAGATGATCAAGTGCTGACGGTAAAAACAAAGCCCGACCCCTTTCCTCGCTCCCCGCCCCCGCCC
TCCGCGGTGGGAGCACTGCCTCCGGAACGCACTGCACTAATGTGGAGACCTCGAGATTCTGCGAGGTCCCTGCCTTGCCCCCGGGTTCAC
ATACTCATGCGCGGGTTGAGGGCGCAGGGATCGCTGTGCTGCTTCTGCAGGTCCTGGCAGTCCCCGTGCAGCTTCCAGGCGTTCCCGAAG
TCCTCCACCCGGGGCTCCGCCAGCCCAGAGGGG -/G TAAGGAAGTCGTCGCCCTGGTTGCCATTGTAATTCCCACACAGGCCGCAGGT
CTTCCCGGCATAGACGGGGGACAGCTGCAGGAGAGACCAGGCCACTCTGGAGCCGCTGCCGCGAAAGCAGCGGCATAGTTGTTTAGCTAA
TGAGATGGTTTTAATAAAAAAAAAAAAGTTCCCCGGGTGAAACATAAATATGAATGTAATAAAAGGCAGCTAAGCCCTAGGCTGCAAAAG
GGGGGGCGGGGGAAAGTGAACTGCAGTGTAAATTTACCAGCTCCATCCCTGTTCCCAAATCATCAGAG-3'

[Top]

RS ID: 35365059 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6167118

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAAGTCACTTTGCCTCTTTGGGCCTCCCTTCTCCATCCTTAGATGATCTGATAATTTCTAAAATCTCTTGTGGCAGTACAGGGCTC
TGATGATTTGGGAACAGGGATGGAGCTGGTAAATTTACACTGCAGTTCACTTTCCCCCGCCCCCCCTTTTGCAGCCTAGGGCTTAGCTGC
CTTTTATTACATTCATATTTATGTTTCACCCGGGGAACTTTTTTTTTTTTATTAAAACCATCTCATTAGCTAAACAACTATGCCGCTGCT
TTCGCGGCAGCGGCTCCAGAGTGGCCTGGTCTCTCCTGCAGCTGTCCCCCGTCTATGCCGGGAAGACCTGCGGCCTGTGTGGGAATTACA
ATGGCAACCAGGGCGACGACTTCCTTACCCCCTCTGGGCTGGC A/G GAGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCAC
GGGGACTGCCAGGACCTGCAGAAGCAGCACAGCGATCCCTGCGCCCTCAACCCGCGCATGAGTATGTGAACCCGGGGGCAAGGCAGGGAC
CTCGCAGAATCTCGAGGTCTCCACATTAGTGCAGTGCGTTCCGGAGGCAGTGCTCCCACCGCGGAGGGCGGGGGCGGGGAGCGAGGAAAG
GGGTCGGGCTTTGTTTTTACCGTCAGCACTTGATCATCTGAACTGGGCCATTTGCTCTTCAAAGTCCCTTTATTGGGCGCCCGCCACAGG
CCAACCCCCGGGAAAGAAAAAAAAAAAAAAAGTCTACCGAGGCGGGAGGATCGCTTGAGGGCAGGAGTTCGAGACCAGTCTGGGCAAC-3
'

[Top]

RS ID: 35335161 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6078424

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 F [Phe] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGGAAGGGAGGGTGAGTCCCCTGGCTTCTCCAAGGTGCTTGCCTGGGTGCCTCAGTCAGGTGATTTTGACCCAAACTGTTTGAGT
GGTGCTCACTGAGACGAGCCCCACTCATCCCCTCCGTGGGCCCTACCCTGTGGTGGGACTTACATGTTAAGCCAGGCTTCACGTCTAGAA
ACCACCTTCCTGAGAGAAGAGCACATTCCCAATGGGACCCTGGGCTCCAGCCCTGCCCCAGCTTGTTGGACTAACTCTGGTGCCCTGCAG
GTCGGCTCCCAGTGGGCCTCCCCGGAGAACCCCTGCCTCATCAATGAGTGTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAAC
GTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCT A/T TCAGCTGAGCTGTAAGACCTCAGCGTGCTGCCCAAGCTGTCG
CTGTGGTAAGGCATGCAGGCTGGGGCTGGGCTGGACCGGGCACCACCTTTAAGCCTCTCTTTCCACTTTTGGCTCCTGAATTCTTTGCCT
TTTTAGCAACTTAGGGAAATGGATAGGACCGAAATCTTCCCATCTGCTCCTACTGCTTTTATGAGAAAGCAAATTAAATGGGAAAACCAT
AGGAATTTCCTGAAGATCACTACATGGCAAGACTGGGATTCGGCCCTAGGCTTCTCTGATTTGGAGACCACCTTTGAAATGCTGTGACGT
TTCACCCAGGGGAAGGCGTTCAACTTGCCACCCCAACGCTGCCAACAAACAGAAAAATGGCAACAACAACAAAAACTAGTTCTTTCTA-3
'

[Top]

RS ID: 35302737 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6166174

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATAGTCCCCGTCCTTCGACCTTCCCAGTCTACTGCAGCAGCAGCTTACAAACTCAGCGTTAGATGATTGTAAGATAAATGGACTTG
GGGGTGGGGGTGGCATTTGCAGATTTCTCTGCGTGACCTTGCAGCCCTCTATTAGCAGCACTGGGCTATTTCCAGGGGAGTGTTGACCGG
GAGGGCGTGGCCCCCACTCCTCCCCACCACATCCCAGGCTCGCTCCTCTCGCCCCACAGCCAGGTTCTCCGAGGAGGCGTGCGCGGTCCT
GACGTCCCCCACATTCGAGGCCTGCCATCGTGC C/T GTCAGCCCGCTGCCCTACCTGCGGAACTGCCGCTACGACGTGTGCTCCTGCT
CGGACGGCCGCGAGTGCCTGTGCGGCGCCCTGGCCAGCTATGCCGCGGCCTGCGCGGGGAGAGGCGTGCGCGTCGCGTGGCGCGAGCCAG
GCCGCTGTGGTGCGTGCCCTCCCTGCCCGCAGCCCTCCGGGCCGCCCCCCAAATCCGTCCACGTGTGCTTTTCGAAGCCCTTTCTCTGCG
TTGTTTCCTGTGGAAAGAGGGCGTAGGGCATTGTGACAAACACGGGTGGGGAGGACGGTTCATTTGCA-3'

[Top]

RS ID: 35191786 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6140691

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCCCCACCCCACTCACTGCAGGCACCTGGCTCATCTGTCGTGGGCGAGGTTGACACACCTGAGGGCATTCACCTGGGCATATCCC
CCGTCCCCCAGACACACACAGAGGCACATATGCGCAGCCATGGACGTGGCAAGATCCTGTGACACGTACTCAAAGGCCTGTGATGAAGAG
ATGCCAATCTTCTGGTCTGGTGAGAGCCAGTGGGGATAATGGTCTTCTCCTGGCACTCCTCTTTCCCCAGGATTACTGCGGCAGTAACCC
TGGGACCTTTCGGATCCTAGTGGGGAATAAGGG A/C TGCAGCCACCCCTCAGTGAAATGCAAGAAACGGGTCACCATCCTGGTGGAGG
GAGGAGAGATTGAGCTGTTTGACGGGGAGGTAAGTGCAGCCTCATCTCCACCCTCATGTCCCGCTTTGTGCTTCTGCCACTTAATAGGAA
CATTTTCCAAGCATTCATTTAGAGCTCGTGTGAATGGAATAACGCACAGCCATTAAAGAGGATGAGGCAGAGCTATTGCAACTGACCGTG
ACGTATTATTTTATGAGAAGAACAAGTGGCAGAACAATAGGGATGACACAATCCCATTTTAGCGACAG-3'

[Top]

RS ID: 34625593 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6167096

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000552 Link_out NP_000543 Link_out 3 F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGGTTGGCCTGTGGCGGGCGCCCAATAAAGGGACTTTGAAGAGCAAATGGCCCAGTTCAGATGATCAAGTGCTGACGGTAAAAAC
AAAGCCCGACCCCTTTCCTCGCTCCCCGCCCCCGCCCTCCGCGGTGGGAGCACTGCCTCCGGAACGCACTGCACTAATGTGGAGACCTCG
AGATTCTGCGAGGTCCCTGCCTTGCCCCCGGGTTCACATACTCATGCGCGGGTTGAGGGCGCAGGGATCGCTGTGCTGCTTCTGCAGGTC
CTGGCAGTCCCCGTGCAGCTTCCAGGCGTTCCC -/C GAAGTCCTCCACCCGGGGCTCCGCCAGCCCAGAGGGGGTAAGGAAGTCGTCG
CCCTGGTTGCCATTGTAATTCCCACACAGGCCGCAGGTCTTCCCGGCATAGACGGGGGACAGCTGCAGGAGAGACCAGGCCACTCTGGAG
CCGCTGCCGCGAAAGCAGCGGCATAGTTGTTTAGCTAATGAGATGGTTTTAATAAAAAAAAAAAAGTTCCCCGGGTGAAACATAAATATG
AATGTAATAAAAGGCAGCTAAGCCCTAGGCTGCAAAAGGGGGGGCGGGGGAAAGTGAACTGCAGTGTA-3'

[Top]

RS ID: 34510401 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6143953

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACTTTGGACAACCCCTTCCCTTCTTTGCCTCAGTTTCCCCCTTTTAGGGACAGCCACTAGGCTTCCCTGTCTCCTGCTGGGCCCC
ATGCTGGGCCTATGAAGTCCACACTCCACGCTACAGGTCCTCAACTTCCTTGGGCTTCCTGGAGGGTTGGGAGGCACCCAGAGTATTCTG
TGTTCCTTCATTGCCTCCATGGCCCAGATGGGCCCCTCAAACCCAAGGTGCCCAACTTGTCATCTCTGCCATGACTGCTCCTAGTGTCTG
TCGGGACCGGAAGTGGAACTGCACAGACCATGT G/T TGTGATGCCACGTGCTCCACGATCGGCATGGCCCACTACCTCACCTTCGACG
GGCTCAAATACCTGTTCCCCGGGGAGTGCCAGTACGTTCTGGTGCAGGTGAGAGGTGGGGAGATGGGGAGAGGGTGCTGTTTCTTTCTAG
GAGGGGTGGGAGGTGTGGCCTCAGGTTGGGTTCTGTGGATCTGTCTGCAGAAACAACTCTGGGGTCTGGTTTCTACTGGAGTACTTCCCA
GTCCTTCACAGAAGTGCCTGAAGCGGTAGGGGATTTGAAGCTCAAAGTGGTTGTCCATTTTCCCTCTG-3'

[Top]

RS ID: 34237676 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6166084

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGGGGTGGCATTTGCAGATTTCTCTGCGTGACCTTGCAGCCCTCTATTAGCAGCACTGGGCTATTTCCAGGGGAGTGTTGACCGG
GAGGGCGTGGCCCCCACTCCTCCCCACCACATCCCAGGCTCGCTCCTCTCGCCCCACAGCCAGGTTCTCCGAGGAGGCGTGCGCGGTCCT
GACGTCCCCCACATTCGAGGCCTGCCATCGTGCCGTCAGCCCGCTGCCCTACCTGCGGAACTGCCGCTACGACGTGTGCTCCTGCTCGGA
CGGCCGCGAGTGCCTGTGCGGCGCCCTGGCCAG C/T TATGCCGCGGCCTGCGCGGGGAGAGGCGTGCGCGTCGCGTGGCGCGAGCCAG
GCCGCTGTGGTGCGTGCCCTCCCTGCCCGCAGCCCTCCGGGCCGCCCCCCAAATCCGTCCACGTGTGCTTTTCGAAGCCCTTTCTCTGCG
TTGTTTCCTGTGGAAAGAGGGCGTAGGGCATTGTGACAAACACGGGTGGGGAGGACGGTTCATTTGCACCCACTTTTCCCTTCCACCTCC
CAGCAGGACAGGCGGTGGGGACCGGCTGATGATTCGGGCCTGTTCCAGGAAGACAGGTTGGCTCCTCC-3'

[Top]

RS ID: 34230288 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6103094

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTTTTGTTTGTTTGTTTCTCTAGGGATCTGTGATGAGAACGGAGCCAATGACTTCATGCTGAGGGATGGCACAGTCACCACAGAC
TGGAAAACACTTGTTCAGGAATGGACTGTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGAGGAGCAGTGTCTTGTCCCCGACAGC
TCCCACTGCCAGGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGAC
AGTTGCCACCAGGAGCAAGTGTGTGAGGTGATC G/T CCTCTTATGCCCACCTCTGTCGGACCAACGGGGTCTGCGTTGACTGGAGGAC
ACCTGATTTCTGTGGTGAGTCTCCAAGTTACCTCTGAAAATCCTGGAGACCAGCTAACTGGGCTTGCTCAGCCTCTCTGTGCCCCAGATT
CTTTATCTGGCTAATAAGGATGAAAATCCCTGTATTTCGTATGACCTGGAATTCCAGTTAGGATCAAATAAGATGGAAGATATATATATA
CATATACATATATGTATATGTGTGTGTGTGTGTGTATATATATATATACACACACACACACATATATA-3'

[Top]

RS ID: 34120165 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6092372

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTATGTATGTATGTATCTATCTATCAAATCTATCTCATGTATCTAGTTATCATTCTATCTATCTATCTATCTATCTATCTATCTA
TCTATCTATCTATCTATCCTAACCCATGTAATCTCTGTCTCCATCATCATCACTTACCTAAAACAGTAGAAGTCTGCATGAATAGGAATG
TAGCATCCCACTCACAGGTAATAAAAGAGTAACCTTTCTGAACTCTGCATGGACGTCTCTCTTTCTGGCCCTCAGTGTGTGACCCAGTGA
GCTGTGACCTGCCCCCAGTGCCTCACTGTGAAC A/G TGGCCTCCAGCCCACACTGACCAACCCTGGCGAGTGCAGACCCAACTTCACC
TGCGGTAAGGCCTCTGTGGATGAGGAGGGGTGGTGTGGCCTCTCTCTGCTGGTGTGAGGGAGGCCATCCTCCTCAGGGACCTCTTCCAAG
ATCACGTCATTTCCTGTTTTCTACCTAGCTGAATCTGGGTTGGGAGTACATCTGGAACAGAGGGGTTAGGGTCACACCTGCACGGAATCC
TTCCGGCTGCACGCTGCTGAAGGATACCAGGTGTGGGCACAGCCACAGGCACCTCCGTCTTGGGTTTA-3'

[Top]

RS ID: 33978901 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6140659

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCACTTCATACACACACACACACACAAAGAAACCCGGCTACCCTCCAGTCCCCACCCTACTCTAGAGGTGAGCACTGGTTCTTCCC
ACGTTTGTGCAGACACATGTGCACATCCTTCACACACACTCTGCACTGTCGCTAAAATGGGATTGTGTCATCCCTATTGTTCTGCCACTT
GTTCTTCTCATAAAATAATACGTCACGGTCAGTTGCAATAGCTCTGCCTCATCCTCTTTAATGGCTGTGCGTTATTCCATTCACACGAGC
TCTAAATGAATGCTTGGAAAATGTTCCTATTAAGTGGCAGAAGCACAAAGCGGGACATGAGGGTGGAGATGAGGCTGCACTTACCTCCCC
GTCAAACAGCTCAATCTCTCCTCCCTCCACCAGGATGGTGACC C/T GTTTCTTGCATTTCACTGAGGGGTGGCTGCATCCCTTATTCC
CCACTAGGATCCGAAAGGTCCCAGGGTTACTGCCGCAGTAATCCTGGGGAAAGAGGAGTGCCAGGAGAAGACCATTATCCCCACTGGCTC
TCACCAGACCAGAAGATTGGCATCTCTTCATCACAGGCCTTTGAGTACGTGTCACAGGATCTTGCCACGTCCATGGCTGCGCATATGTGC
CTCTGTGTGTGTCTGGGGGACGGGGGATATGCCCAGGTGAATGCCCTCAGGTGTGTCAACCTCGCCCACGACAGATGAGCCAGGTGCCTG
CAGTGAGTGGGGTGGGGGTGGGGAAGGAGGGGGAGGGAAGGAAGGTGACATGTGGCCTGCTTCGATGGATGCATCAGGCTCAAAGGCC-3
'

[Top]

RS ID: 16933969 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6131161

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAACTCATGTGGCTAGGACTTTTTACCCAAAACCTAGTCTCTAAGCTGGCCCCTGGAGAAGCAATAAGATTCATCACTTCAAACAA
CCCAGGAATCTGTTTTACCAAATCTGGCAGTGCTCAGGGTCACTGGGATTCAAGGTGACTTTCTTTCCTGAGGCAAAACGCCGGCCAGCC
ACCTCACACACTGGACAGTCTTC A/G GGGTCAACGCAGGTCTGCAAAAGCTCATCCAGGATTTTCCCTGCAAAAGAAAGCTCTCATTA
GGAACCAAAACGCTCCCCTTTCCCACGAGGAAGCCTCATTTTTAACTAAAAGGGAGGAGCCAACTCCTCCTCCTGCCCTAGAAGCCAACT
CCTCCTGCCTGCACTCCCAGGGGTCACCCCATCACTCAAGGAGCATCT-3'

[Top]

RS ID: 16932374 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6155950

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGATCCTGGGCGAAGCCAGACCCATGCCTGGGTGCACACGCACATCTGACGGTGTCACCCAGCTCTCTCCCGCCATTCCACACGTG
AGGAATCTGGGCAGGATGGAGTCAATGGGCCTTCCAGGGGGACAGTACTCACTGCGATGAGACAGGGGACTGCTGAGGACAGCGTCAGGC
AGCAAGCTTCCGGGGACTCCACT C/T ATGGTACAGTGCATGAAGCCATCCTCACAGTAGCTGCAGAGAAGAAAATCATAGCCGAGCTT
CACGAGACTCGTCTATACTCGCTGCCTCCACATCTTCACCTCCCACTCACTCTCTGCCCCTTCCAACCAGGTCCCAGTCCCATAACCCCT
CCTGAAGCACAGCTTGCTAACGTTACCAATGGATGATCCCCACGTCACTAAATCCCATGGGACTTTTTTCAGTTATTTGCTTAATTGATC
CCATTCAACATTATTCATCACTGTTGAACACTCCACTCTTCTAGAAAAAAAATATTTCTCTCTCCAGGTTTTCCTCCCACTTCCTTGGTT
CCTCCTTCTCAGCCTCAGCTTTCATGTGCCCCCACTGCCTGGCCTTTCAATATCGGCCTTCCCCAGGCTCTGTCCTAGGCTCGCTCCTCT
TCTCACACTCTGCTGCCATCCCCAGTTCCAATCACAGACATGACTCATAAATCTACATCAGCAGCTCGGACCGCTCCT-3'

[Top]

RS ID: 16932285 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6078408

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTCCGAGTGAAGGAGGAGGTCTTTATACAACAAAGGAACGTCTCCTGCCCCCAGCTGGAGGTCCCTGTCTGCCCCTCGGGCTTTC
AGCTGAGCTGTAA A/G ACCTCAGCGTGCTGCCCAAGCTGTCGCTGTGGTAAGGCATGCAGGCTGGGGCTGGGCTGGACCGGGCACCAC
CTTTAAGCCTCTCTTTCCACTTTTGGCT-3'

[Top]

RS ID: 11837584 Link_out

Alleles: A/C

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
12 6182808

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 C [Cys] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTAAAAATAAAGACCAGCTCAATCCTGATCACGCTGGACAAAGACATTTAAAAACTTAATAAAAGGCTTCTGATTTCAGCAACGGG
GAGCAAACACAAGTGGCCTTCATCTCACTTCCCAAAGCCAAGGGTGCTGGCAAGGTCTCTGATCTGTAAATAAAGTGGGAAGTTCATTAC
CAGGGCAGCTGCAGCCATCCACG A/C ATCGCTCCTGACACATTTCATTGATGTGCAGGCTCTGGCAGGTCCTGGCGCAAGGGGACACA
CACTGCCTATACTCCATACCAGCAGGGCACACTGGGCCTGAAAAGGAACATCAAAGGGGTCTACCCAGGGCAGGTCCCACCGGTGCATCA
TCTCACCAGCCATGCCACAGCCTGAGCCTCTCGTGCCCACTCTGACTG-3'

[Top]

RS ID: 11537642 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6103281

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTAGCGAGGGTCAGATTCTGGTGAGGATCAAGAATGGCCTGTCTCTGGCATCAATGTTTTTGTACCCAGGGCCACTCAGTTTATCT
TTTTTTTGTTTGTTTGTTTCTCTAGGGATCTGTGATGAGAACGGAGCCAATGACTTCATGCTGAGGGATGGCACAGTCACCACAGACTGG
AAAACACTTGTTCAGGAATGGAC A/T GTGCAGCGGCCAGGGCAGACGTGCCAGCCCATCCTGGAGGAGCAGTGTCTTGTCCCCGACAG
CTCCCACTGCCAGGTCCTCCTCTTACCACTGTTTGCTGAATGCCACAAGGTCCTGGCTCCAGCCACATTCTATGCCATCTGCCAGCAGGA
CAGTTGCCACCAGGAGCAAGTGTGTGAGGTGATCGCCTCTTATGCCCA-3'

[Top]

RS ID: 11064012 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6161937

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCTGGCTGGAAGATCTCACCGTCATAGTAACAGGGGCACTGGGCCTTGGGCACGCAGTCCCCCCTCTCATCCATGTAGAGCCCTG
GGGGGCAGAAGCAGCCCTCCAGGCAGGCCTCATTGCATTCCTCATCCGGGTAAGAGAGAGAGCGGCAGGTCAGGTTGCAGGGGGTCCCGC
ACTGCAGGTACACCTGGCCTTTC A/G GGCAGTTCAGCTCTAGAAGAGAGAGGAGAAGTAAGGCCTCAGCGGGAATGTTGGACAGCAAG
GACTGTGGTTCTAGGACTTGCCACCCCTTGTAGCTGTGACCCCCAATTATTTaattaaaatttttattgagataattgtagacttgcttg
caattacaagaagtaatgcagaaagatcccatgtaccctttacccagttttccccaaGTGACCCCCAATTATATCTGTATGGTCATCAAC
TTCCTTTCCCACTATGAGCAAATGTGTATTTTTCAGCATGCAGATATGTATTATAATTATG-3'

[Top]

RS ID: 11064002 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
12 6143885

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 F [Phe] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAATCCCCTACCGCTTCAGGCACTTCTGTGAAGGACTGGGAAGTACTCCAGTAGAAACCAGACCCCAGAGTTGTTTCTGCAGACAGA
TCCACAGAACCCAACCTGAGGCCACACCTCCCACCCCTCCTAGAAAGAAACAGCACCCTCTCCCCATCTCCCCACCTCTCACCTGCACCA
GAACGTACTGGCACTCCCCGGGG A/G ACAGGTATTTGAGCCCGTCGAAGGTGAGGTAGTGGGCCATGCCGATCGTGGAGCACGTGGCA
TCACACACATGGTCTGTGCAGTTCCACTTCCGGTCCTGACAGACACTAGGAGCAGTCATGGCAGAGATGACAAGTTGGGCACCTTGGGTT
TGAGGGGCCCATCTGGGCCATGGAGGCAATGAAGGAACACAGAATACT-3'

[Top]

RS ID: 11063988 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128446

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCTCATCCACACTGCTCAGCACGAAGGCCTTGTTCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGG
CCCAATGCCCACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTG
GCTGGCCATCAGGAGCAGGGTGA C/T GCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAGATTTGGAACAGTGTGTATTTCAAGACCT
CGCTGGTGGAGGCCACCTGGCTGCCCGCATACTTCACCTGGCTGGCAATGCGCCGCAGCTCTGACGGTCGCTTCCGGTCCTTGAGCCCGA
TGTAGGCGTGGGAGCCGTCGTGGTACTCCACCACGGCCACGCGGACCC-3'

[Top]

RS ID: 11063987 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6128280

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGAACGCCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCA
TGTCGGGGGGCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGCTCCAGCTCATCCA
CACTGCTCAGCACGAAGGCCTTG C/T TCTCAGGGGCCTGCTTCTCGATGAGGCGGATCTGCTTGAGGTTGGCATGGGGCCCAATGCCC
ACCGGGATCACAATGACCTTCTTCTTCTTCAGGCCCTGGACGTAGCGGACAAAGTTCCGGGACATCCGTTGGGGCTCCTGGCTGGCCATC
AGGAGCAGGGTGATGCGGGAGGCTTCAGGGCGGTCGATCTTGCTGAAG-3'

[Top]

RS ID: 10849371 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6094784

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGTACGGTCATCCCACAAGGATCCAGGCCACGGGACCTCTGACAGATGAGTGTCCCCATGTTCCTGTTGACACCCTCACATTTAC
CCTCCAGGGGACTCTTAAGTCTGACCGTTGCTGGGGACCAGAGGCGAGGGTTAATCTGAGAATGTCGACCCCAGGTGCAGAATGGGGCTC
CCAGGCCCAGTGATGGGAAATGCAGGCTGGGCAAGGAAGCCCACCCACTCTAGGACTCTAGGTGCCAGTGTTTGAGTCTGCTCTGCCAGA
GGTGAAGATGGGTGGCTGGGGGGCCTTGCAGGGGCCCTTGTTCCTCCATGAAGGCACCAGGGAGGGGAGGACTCTCACCTTTGGCCGTGG
GGCAGGGCTGCGTTGTGCAGTTGACCTTCCGCCCGCTGAGGCA C/T GTGCAGATCTGACAGGGCTGGTGGTCCGGGACCCAGGCTTCC
AGGAACTGAGGGCAAAGCGAGGTTCAGAAAGGGCACAGGACATTCTAGGTACGAAGCCCAGAATTCACAGAGGTCAGCTCTCCCTGCCTC
CGGCAAGGGCCAGTCCCTGACCCAGCCCTCTGACAGAGCCTCACAGGCAAACAAAAGCAGGCTGAAAGGAGGTTGTGAGGTTCTAATGGC
TTTCAGAAAGGTGGTTGCCACATTGCTTTGTAAACTAACATGCGGAAATTTTCACTACAGCCTTCTCTGTTGGCAGTGCTAAAACCAAGC
AAAGAAAGAAAAATGAGAGTTCTTGGATCGCACTGCTAGTCATTTCTCAAGCCAAAGGAGAAATTGGGTTGTTGCTTGGGGAAAAAAA-3
'

[Top]

RS ID: 7962217 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6061559

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCAGATGTAAACTATGCTTTCCTATCATAAATGTGAGCAGCTTGACCACCCTACCTGACCAGGCTGAAACAATTTTGATGATTCT
GAATTCTCTTCCAGTTGAGTCATCAGGATCTTCATTCCCAGGGAGACTAAAAATCAGTTTGATCTCACATTTTATTCAAGAATCACACAC
TCAGCCTCCCTTAAGGAAAATATTTTTTTAAAACATCCTATATTGCAGAGAATTTTATCTCTCCGTAGGCTTTGATTTCGTAATCTCACT
GATTCTTCAACTAGGCCAGAGATGTGCCTCAGACACTGAGAAATTATGCCGGAGCTGGGATGCACACTATTCAGAAGAATCTTGTTCTTA
GAGATTGAGACAGTAAAGAGGAAAGCAGAATGAGTACTCACTC C/T CTCAGCCAGACACTTGTGTTCATCAAAGGGTGGGCAGCCTGT
GACCCTCTTCTCCCAGAAGTACTCTCCTCTCTCATTGACCTTGCAGAAGTGAGTATCACAGCCATCCTGGAGCGTCTCATCACGCTGGAA
GGAAAGAGGAGTGGGTAAAGTCAGAGACAGTGTTTGGTTCACAAAGCCACTTCAAACCATGAGCTTGACTCCATGGAGATGACGAAACAA
TCTGCAGAACCATGAAACAAGAAGACAGTGTATAATAAAGCCCCCACACCCAGAACACAGACCAGAAGTGGAGTCCCAGTTTTACAGCTT
GTATCCTATGAACAGGGCTGCTATGTAGACTCTTCCGACCAGTTAAATGCTTGAAGGATTGAGATATAGCAACAGTAAACTGGCTAGC-3
'

[Top]

RS ID: 5020485 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6094787

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTACGGTCATCCCACAAGGATCCAGGCCACGGGACCTCTGACAGATGAGTGTCCCCATGTTCCTGTTGACACCCTCACATTTACCCT
CCAGGGGACTCTTAAGTCTGACCGTTGCTGGGGACCAGAGGCGAGGGTTAATCTGAGAATGTCGACCCCAGGTGCAGAATGGGGCTCCCA
GGCCCAGTGATGGGAAATGCAGGCTGGGCAAGGAAGCCCACCCACTCTAGGACTCTAGGTGCCAGTGTTTGAGTCTGCTCTGCCAGAGGT
GAAGATGGGTGGCTGGGGGGCCTTGCAGGGGCCCTTGTTCCTCCATGAAGGCACCAGGGAGGGGAGGACTCTCACCTTTGGCCGTGGGGC
AGGGCTGCGTTGTGCAGTTGACCTTCCGCCCGCTGAGGCATGT G/T CAGATCTGACAGGGCTGGTGGTCCGGGACCCAGGCTTCCAGG
AACTGAGGGCAAAGCGAGGTTCAGAAAGGGCACAGGACATTCTAGGTACGAAGCCCAGAATTCACAGAGGTTCAGCTCTCCCTGCCTCCG
GCATGGGCCAGTCCCAGACCCAGCCTCTTACAAGTCCTCACATGGCAACAAAATCAAGCTCAAAAGAAGGTTTTAAGGTCTCAATGGTTT
CACAAAAGGGGTGTTTCACATTTCCTTTTGAAAACTTAAATAGTGGGGAATTTTTTCTTCATTAAAGCTTTTTTCTTCTTGTGAGACATT
TTGTCAAAAAACCTCAGCATTAAGATTAGTGAGAAAATTTGTGTTAGATTTCTCTCTTGAGATTTCGGCCTGGTTTATATAGCTTATT-3
'

[Top]

RS ID: 4021576 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6132936

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGATCACTCATATTGGCAAATATAATCACGCCTAATTAAAGACATAAATCGACTTCCTTCTTTTCATCAGTATTCCCTCTTCTCCCC
TGCCAGAATCTCTCCAGAAGAAAAGTCTCCACATGTTCATGCCTTGAATCCATGTCCCACCTCACCCGTAATATAAACTTCTTACACAGC
CAATGTCTTAACCCTCCTTAGCCCTTGGCCATCCAGTCCCTACTAACACTCTGTCTTCTCTCGCCCATGAAGATATCCCCCTGCACTCAC
AAGGTCTTCAAGCATAGACACATGGGAAGAAGGGAGGGCATCTGAGAACATGAGGGCGTCAGTACTCACGGCACAATGTGGCCGTCCTCC
AGGTCACCACCTTGCCATGCTGGGCACACACGTGGGCATAGGCAGCAATGGTGTCGCAGAAGCAGGCGCAGTCCCCAATGGACTCACAGG
AGCAGGTGTCGTAAATGCAGACATCCAG A/G TATGGCTCGGGGTCCACCTGCAAAGGCAGCCTCAGGTGGCCCAGGCCTATGGCCAGG
TGTCAGGAACTCTGGCTCTTAGTCTGGGTGCAAATGTTCTGATGGTCAATTTAAGGATAAGGGGGTCCAGGTAGAAGGAGAAATGTAGCT
CAATGGTCTCAAAGAGGGAATGAGTGGGAAGGCAAGATTCTTAGTTTCTAATCTGCATTCCAGCAAGAAGAGTTGAATAATGCAGTGCTG
CTGGCCTTCTGCAGAACACAATGAGCCTGAGGATTTTCCAGAAGAACATTCCCTCTGTCCCTCTGCCTACCTCCCTGCTCAGCCACCCAT
CTGTCCTCACAACCCACTCTTAGCCTCATGAGCATGTGGGTGCTTTTACAAAAACACAAACACACATATGTGCTGGTCACTGTCTTTCTT
TGCCTCAATTCAGCAAAGAGAATGGGGAAATACATCAGGCCCTGCAGCTGCCTCACTGCAGTGCTATGGGGCAGGTATGCAG-3'

[Top]

RS ID: 3741908 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6131182

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAACGCCGGCCAGCCACCTCACACACTGGACAGTCTTCAGGGTCAACGCAGGTCTGCAA A/C AGCTCATCCAGGATTTTCCCTG
CAAAAGAAAGCTCTCATTAGGAACCAAAACGCTCCCCT-3'

[Top]

RS ID: 3087517 Link_out

Alleles: G/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
12 6058241

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGACGGAGCCCATGCAGGTGGCCCTGCACTGCACCAATGGCTCTGTTGT G/T TACCATGAGGTTCTCAATGCCATGGAGTGCAA
ATGCTCCCCCAGGAAGTG-3'

[Top]

RS ID: 2229448 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6125397

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAGCCCATTTGCTGAGCCTTGTGGACGTCATGCAGCGGGAGGGAGGCCCCAGCCAAATCGGTAACGTTGGTGCcacaggctggat
gcagaagctgcattctggttcttatttttggcataagtgactgtgtgacctcggccagtcactttgctccttggccttagtttcttctcc
tggaaagtgaggggctagatgctcttccacgtctctccagatctCAACTGGGTGTTCCTTGGAGTTTCTGAATCATTCAGCTTTTAAGTG
ACTTAAGGATCCACCGTTAAGACAGGGTGTCGAGCCGCAGTCAGTACTGACTTGGCGTGATCTGTTCTCCATCCTCAGG G/T GATGCC
TTGGGCTTTGCTGTGCGATACTTGACTTCAGAAATGCATGGTGCCAGGCCGGGAGCCTCAAAGGCGGTGGTCATCCTGGTCACGGACGTC
TCTGTGGATTCAGTGGATGCAGCAGCTGATGCCGCCAGGTCCAACAGTAAGAATCTGGTGTACAGTCCTCAATTCAGGAGAGCGAGACTT
CAGAAATGATAGAG-3'

[Top]

RS ID: 2229444 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6219682

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGAGTGAGCCTCTCCGTGTATCTTGGGGAATTTTTTGACATCCATTTGTTTGTCAATGGTACCGTGACACAGGGGGACCAAAGAGT
CTCCATGCCCTATGCCTCCAAAGGGCTGTATCTAGAAACTGAGGCTGGGTACTACAAGCTGTC C/T GGTGAGGCCTATGGCTTTGTGG
CCAGGATCGATGGCAGCGGCAACTTTCAAGTCCTGCTGTCAGACAGATACTTCAACAAGACCTGCGGGCTGTGTGGCAACTTTAACATCT
TTGCTGAAGATGACTTTATGACCCAAGAAGGGACCTTG-3'

[Top]

RS ID: 1800387 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6182828

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 3 N [Asn] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACTCTGAAAGGGTTTTAGGTGAAGGGGAGGAAAGAATGCCAAGTTATACATGGAGAGCAGGCGACCAAGGGGAAGGGTGGGGGTC
CTGGGTGCCCCCGATGGGTCTTGGTAAGGGCCTCACAAGATGGAAGATGTTCATCTAAGGGAGGGGTGGCCTCAGGGGGGCACGTGGCTC
ACTGGGGGTGAGAAGGACCTGGAAGCCTGAAGACAGAGGGGAGCAGTCAGAGTGGGCACGAGAGGCTCAGGCTGTGGCATGGCTGGTGAG
ATGATGCACCGGTGGGACCTGCCCTGGGTAGACCCCTTTGATGTTCCTTTTCAGGCCCAGTGTGCCCTGCTGGTATGGAGTATAGGCAGT
GTGTGTCCCCTTGCGCCAGGACCTGCCAGAGCCTGCACATCAA A/T GAAATGTGTCAGGAGCGATGCGTGGATGGCTGCAGCTGCCCT
GGTAATGAACTTCCCACTTTATTTACAGATCAGAGACCTTGCCAGCACCCTTGGCTTTGGGAAGTGAGATGAAGGCCACTTGTGTTTGCT
CCCCGTTGCTGAAATCAGAAGCCTTTTATTAAGTTTTTAAATGTCTTTGTCCAGCGTGATCAGGATTGAGCTGGTCTTTATTTTTAATGT
ACGTTGTCCTGTTGTACTGTATCCATGAACGCACTTGTGTTGAGGGAAATTGGAGGGTGGCCTGGGCCCCAACAGTAACTTTGTTTGGGG
AACTCGTGGCCCATCTGAGCTGAGCTGTTTTCTCAATTAGGTGTGTCAGGGAACCGATCTGGGAAAAAGATCTCCTGGGTTTGTCATG-3
'

[Top]

RS ID: 1800386 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
12 6127833

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 Y [Tyr] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACATGGTGACTGTGGAGTACCCCTTCAGCGAGGCACAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCG
GCAACAGGACCAACACTGGGCTGGCCCTGCGGT A/G CCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCC
AACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGACATCCA-3'

[Top]

RS ID: 1800385 Link_out

Alleles: G/T

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele

Details:

Chromosome Reference Position
12 6127891

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAGGAGGTGATTCAGC
GGATGGATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACCGTGGAGTACCCCTTCAGCGAGGCACAGT
CCAAAGGGGACATCCTGCAGCGG G/T TGCGAGAGATCCGCTACCAGGGCGGCAACAGGACCAACACTGGGCTGGCCCTGCGGTACCTC
TCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACATGGTCACCGGAAATCCTGCCTCTGATGAG
ATCAAGAGGCTGCCTGGAGACATCCAGGTGGTGCCCATTGGAGTGGGC-3'

[Top]

RS ID: 1800384 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
12 6127919

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGCCCAAGAGGAACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGC
AAGGAGTTCATGGAGGAGGTGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCACGGTGCTGCAGTACTCCTACATGGTGACC
GTGGAGTACCCCTTCAGCGAGGC A/C CAGTCCAAAGGGGACATCCTGCAGCGGGTGCGAGAGATCCGCTACCAGGGCGGCAACAGGAC
CAACACTGGGCTGGCCCTGCGGTACCTCTCTGACCACAGCTTCTTGGTCAGCCAGGGTGACCGGGAGCAGGCGCCCAACCTGGTCTACAT
GGTCACCGGAAATCCTGCCTCTGATGAGATCAAGAGGCTGCCTGGAGA-3'

[Top]

RS ID: 1800383 Link_out

Alleles: C/G

Validation:

  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
12 6128170

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAAGAAGAAGGTCATTGTGATCCCGGTGGGCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTG
AGAACAAGGCCTTCGTGCTGAGCAGTGTGGATGAGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAG
CCCCTCCTCCTACTCTGCCCCCC C/G ACATGGCACAAGTCACTGTGGGCCCGGGGCTCTTGGGGGTTTCGACCCTGGGGCCCAAGAGG
AACTCCATGGTTCTGGATGTGGCGTTCGTCCTGGAAGGATCGGACAAAATTGGTGAAGCCGACTTCAACAGGAGCAAGGAGTTCATGGAG
GAGGTGATTCAGCGGATGGATGTGGGCCAGGACAGCATCCACGTCACG-3'

[Top]

RS ID: 1800381 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
12 6128573

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGGGCTCAAGGACCGGAAGCGACC A/G TCAGAGCTGCGGCGCATTGCCAGCC-3'

[Top]

RS ID: 1800380 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6138595

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCAGGTGGGGTCCTGGAGGGGTGGCAGTGCCTGCACTCGTGGGCACTGAAGACAGATGGGCAGGTGTAGAGTGGAGGGAGGATCT
GGCTGTCGAGCCTGCCCTTCATCCTCCTGGATTTCTTGCTTTGTCTTCCTCCAGGTGAATGTGAAGAGGCCCATGAAGGATGAGACTCAC
TTTGAGGTGGTGGAGTCTGGCCG A/G TACATCATTCTGCTGCTGGGCAAAGCCCTCTCCGTGGTCTGGGACCGCCACCTGAGCATCTC
CGTGGTCCTGAAGCAGACATACCAGGTCAGTGGCTTTCTTGCTTCATCTTGTTGGGGACTTGGCCTTTGGAGTGTTTTCTGCTCCCTGAt
cgtaggtctctaaggacttgctttatgaatccaggtgctcctgtgttgggtgcatatatatttaggatagttagctcttcttgttgaatt
gatccctttaccattatgtaatggccttcttttgatctttgttggttcaaagactgttttatcagatactaggattgcaacccctgcttt
tttttttttgccttccatttgcttggtagaccttcctccctccctttattttgagcctatgtatgtctctgcacgtgagatgggtctcct
gaatacagcacactgatgggtcttgactctttatccaattggccagtctgtgccttttaattggggcatttagcccat-3'

[Top]

RS ID: 1800379 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6167196

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCACAGAGGGCAGAGTGCTTCGGGCTGGGCTCAACCTGCCTACTCACCCTAGCTCCGCCACTACCTCCCTGACCTTAGGCAAGTCAC
TTTGCCTCTTTGGGCCTCCCTTCTCCATCCTTAGATGATCTGATAATTTCTAAAATCTCTTGTGGCAGTACAGGGCTCTGATGATTTGGG
AACAGGGATGGAGCTGGTAAATTTACACTGCAGTTCACTTTCCCCCGCCCCCCCTTTTGCAGCCTAGGGCTTAGCTGCCTTTTATTACAT
TCATATTTATGTTTCACCCGGGGAACTTTTTTTTTTTTATTAAAACCATCTCATTAGCTAAACAACTATGCCGCTGCTTTCGCGGCAGCG
GCTCCAGAGTGGCCTGGTCTCTCCTGCAGCTGTCCCCCGTCTA C/T GCCGGGAAGACCTGCGGCCTGTGTGGGAATTACAATGGCAAC
CAGGGCGACGACTTCCTTACCCCCTCTGGGCTGGCGGAGCCCCGGGTGGAGGACTTCGGGAACGCCTGGAAGCTGCACGGGGACTGCCAG
GACCTGCAGAAGCAGCACAGCGATCCCTGCGCCCTCAACCCGCGCATGAGTATGTGAACCCGGGGGCAAGGCAGGGACCTCGCAGAATCT
CGAGGTCTCCACATTAGTGCAGTGCGTTCCGGAGGCAGTGCTCCCACCGCGGAGGGCGGGGGCGGGGAGCGAGGAAAGGGGTCGGGCTTT
GTTTTTACCGTCAGCACTTGATCATCTGAACTGGGCCATTTGCTCTTCAAAGTCCCTTTATTGGGCGCCCGCCACAGGCCAACCCCCG-3
'

[Top]

RS ID: 1800378 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6172202

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 H [His] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGTGCAGTGGCAGAGTGTCCCAGGCACATTCAGATGTCGTGGTGTCAATGCTAAAGAGATCCCCCTCTGCTCCAGGGCACCTGCCT
ACAGCCCAGGATGCAGGAGCCTCTGCCTCCCTCCTGTGGCAGTAGGGGGAATGGCAGGTCATAGCGGGGGGTGCAGAGGCTTCTTCCTGG
GGGACCCTATTTGCGCTCTGTCCACCTTGATCACCCTTCCTCCTGACACCCCCTTAAACCTCATGGCCACCCCATCTGCCCCTAAGTCAT
TGCTCTTCAGTGCTACCATCCTTTTGAGACACCCCATTTCCTCCCAAATACATCTGCCTGCCACCACCCTGTCCTCTCCCCACCTCTGCC
TGAGTCCTGTCCTGCTGGGTTCCAGGTGACCTCCGCATCCAGC A/G TACAGTGACGGCCTCCGTGCGCCTCAGCTACGGGGAGGACCT
GCAGATGGACTGGGATGGCCGCGGGAGGCTGCTGGTGAAGGTAGGTGCCCTCACGGGGTACTGGCTCCCTGCGGCCCGACCCTTACAAAG
TACCCCTTGTGCTCTGGGTAGAATGGCTTTGTGTGGTGGGAGAAGAATTCCTTTCTCCTCATGGCCTACACCCCCAGAGCGAGAAACAGG
CCTCTCTTGTTTATGAGGCTGGTGTTTGTTTTCTGGATGCCCCTTCTTGGCCCTGGGGATTCTTCCTGCTGGGCTCTGCTATCCCAAGGG
CCTCTAGACTGGGGTGGGCTCTTGTGGGGCTGGGGAAGGAGCAGGTTTGCTGTCCAATCTCCCGGCTGAAACAAGGCCCGGGAGCAGG-3
'

[Top]

RS ID: 1800377 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
12 6173433

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTAGGTCCAAGGAACACGATGAAGCAGAGGCCCATGGTTCTTTATAAGAGACTGGGCCAGGCTGGGAGAAGGCGTGTGCAAGGAT
GCACTTAGCAAGCCTTCTTGCTGCACAACTCTAGGGGGCCCCATTCACATGGAGTATTCTGGGAGAATGGAGTTGTAGGTTATGAGAAGG
CCAGAGGCTCTCGGGTTGAGGCCTTTCTCTGATTAAGAGGGTCCTGGGCTGGGGAGCTGGATAGGCAGGGGGTGCAGCAAAGTCACCCTG
TGTTCCCTCTTGGCAGTGTGCTGATGACCGCGACGCTGTGTGCACCCGCTCCGTCACCGTCCGGCTGCCTGGCCTGCACAACAGCCTTGT
GAAACTGAAGCATGGGGCAGGAGTTGCCATGGATGGCCAGGAC A/G TCCAGCTCCCCCTCCTGAAAGGTATGCTTCGTCCTGCTCCAT
CAGGCCTGGGGCTGGCACAGCCCATCCCTTAGCACCCTCCTTCTCAACCCTGGCCACTGTCCTTAAGGACCTGCATGCCTCTTCCATGGG
AATGTGATGGAGAGTTATTTTTGGAGGGCAGGGTGGGGTGCTTGGCATGCATCCCTCCAAGAAAGGAAGGCTTCCTGGAGGAGGAAGACT
AGAGAAGGAAGCCTATAGATGAAGAGGTTGCTCTAGACCTGGGACAGAGTGTAGATGGGAAAAGGGAACCGAGAGGATTTTTATTTGGCT
TGAACCAAAGGGGCGAGTTGAGTCTTGGGCAGGTGGTTCTGGTTTGCTCTGGGGTGGGACAGGGGCAGAGGCTGATGCTGAGAGATCG-3
'

[Top]

RS ID: 1800376 Link_out

Alleles: A/C

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6174414

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCCCTGATGCCAGCAGGTAGCGTGGGACATGGCAGTGAGCTGTGAGGGAGGAGGGGAGGCTGCAGGGAGCCTGGAAGCAGGAGCG
TGGGTTCCTGCGTGGTTCCACCACTGACTGAGTGTGGCTCTGTCACCTTCCTTAGTTGCCCCATCTGTAAAATGAGGCCTTGACCTGAAT
GACCCAGCTCTGACATCTTGCAGTTTTAGGAGCAGGAACCGAATTTTCTCGTAGAACTTGTTTTTAGACTGGTTTGGGCAAAGGACGTCC
ATGCAGTTTTGGGGAAGGGCACCCTGCTTGCATATGCATTCCACCTTGGCCACCCCAGGGGAAGTGCCCTCACCTCCCATTCTTCTCCCT
TCCTCTGTGTCTCTCCAGGGGAGTGCCTTGTCACAGGTCAATC A/C CACTTCAAGAGCTTTGACAACAGATACTTCACCTTCAGTGGG
ATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCCTTCTCCATTGTCATTGAGACTGTCCAGGTGAGCTTTGCCAGCCCGGCT
GCTGGTCGGGTGGTAGCCCAAGGTGCTGCATAGCTGCTAGGCTGAATGGGCAGTCCCTGGAAGGCGTGGGGCATTGCTTTCTGTGCATGA
GGGAGGTCTCTTCCAGACTTCAGTTAGCTCCTCATTCATCCAGAAACCCAGCCCATCCCCTCTCTCCCTAGATGCTGGCGGAAGGCATCC
TGCCCTGACAATAATGCCTCCTCAGGGCTGGCTCAGCTCCCCACCCAGTGGACGCATCCTGCTTGGGTCTAGCCTGTTGCCCCCATAA-3
'

[Top]

RS ID: 1800375 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
12 6174423

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCTGGTGTGGCCCTGATGCCAGCAGGTAGCGTGGGACATGGCAGTGAGCTGTGAGGGAGGAGGGGAGGCTGCAGGGAGCCTGGAA
GCAGGAGCGTGGGTTCCTGCGTGGTTCCACCACTGACTGAGTGTGGCTCTGTCACCTTCCTTAGTTGCCCCATCTGTAAAATGAGGCCTT
GACCTGAATGACCCAGCTCTGACATCTTGCAGTTTTAGGAGCAGGAACCGAATTTTCTCGTAGAACTTGTTTTTAGACTGGTTTGGGCAA
AGGACGTCCATGCAGTTTTGGGGAAGGGCACCCTGCTTGCATATGCATTCCACCTTGGCCACCCCAGGGGAAGTGCCCTCACCTCCCATT
CTTCTCCCTTCCTCTGTGTCTCTCCAGGGGAGTGCCTTGTCAC A/T GGTCAATCACACTTCAAGAGCTTTGACAACAGATACTTCACC
TTCAGTGGGATCTGCCAGTACCTGCTGGCCCGGGATTGCCAGGACCACTCCTTCTCCATTGTCATTGAGACTGTCCAGGTGAGCTTTGCC
AGCCCGGCTGCTGGTCGGGTGGTAGCCCAAGGTGCTGCATAGCTGCTAGGCTGAATGGGCAGTCCCTGGAAGGCGTGGGGCATTGCTTTC
TGTGCATGAGGGAGGTCTCTTCCAGACTTCAGTTAGCTCCTCATTCATCCAGAAACCCAGCCCATCCCCTCTCTCCCTAGATGCTGGCGG
AAGGCATCCTGCCCTGACAATAATGCCTCCTCAGGGCTGGCTCAGCTCCCCACCCAGTGGACGCATCCTGCTTGGGTCTAGCCTGTTG-3
'

[Top]

RS ID: 1063857 Link_out

Alleles: C/T

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6153514

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
nonsense NM_000552 Link_out NP_000543 Link_out 3 Y [Tyr] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGATTCAATGTAACCTGCTATAGCAAGGTTAAGGGTGATGACAAGTATGGGACATTAGATGAGAGCTGGGGTCAGAAGAGCTGCCAC
CAATGTAAGCCAGAGGTCAGAAGCCCAGGTGAGAAGATGCCCTCCCAGTCCCACACAGGGACCCTGGCTCAGGCAGCTGCTGGTCCCCGT
GAGTGGGCAACTCTGAGTCTCTTGAATTTAGTCACAGACTCTAGGGGACCAAAGGACAGTGTGGAAGGTAGGTCCATTCTCTCCTTCACT
AATCATCTCTTTGCTTTTCCTACCTTCGAGGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCTGGTGTGTCCCGCTGACAACC
TGCGGGCTGAAGGGCTCGAGTGTACCAAAACGTGCCAGAACTA C/T GACCTGGAGTGCATGAGCATGGGCTGTGTCTCTGGCTGCCTC
TGCCCCCCGGGCATGGTGAGTCACCAGGCACAGAGCTGGTGCCTGCCCTTCAGTTTTCTTGTAGGCAGGGATGAGTGAGGGGGCTGTGCA
GCCAGAGAGAGGAAGAAACAAGGGCTAAACACGGATAGCAATGGAGGTGGTGCTGGTAATGGGGGCATGGAGGAGGGGAGGCTCTTCTGT
CTCCTCCCTGCCAAAGTCAGGGAGGGAGTTGTTAGGAAAATGCCTGGGGTTGATCCTCACAGGATCTGACAAAAATATAAGAACTTAGCT
TACAGGAGTGCCATAGGAAGCAAAGAATTTCCAGAAAATACGTACTAGTAAAAACAAGCATTCCCACTAGAATTTTCCCAGGGGCCGC-3
'

[Top]

RS ID: 1063856 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6153534

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 T [Thr] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAATTTCTGCAATGCATCCTGATTCAATGTAACCTGCTATAGCAAGGTTAAGGGTGATGACAAGTATGGGACATTAGATGAGAGCT
GGGGTCAGAAGAGCTGCCACCAATGTAAGCCAGAGGTCAGAAGCCCAGGTGAGAAGATGCCCTCCCAGTCCCACACAGGGACCCTGGCTC
AGGCAGCTGCTGGTCCCCGTGAGTGGGCAACTCTGAGTCTCTTGAATTTAGTCACAGACTCTAGGGGACCAAAGGACAGTGTGGAAGGTA
GGTCCATTCTCTCCTTCACTAATCATCTCTTTGCTTTTCCTACCTTCGAGGCAAAAGGAGCCTATCCTGTCGGCCCCCCATGGTCAAGCT
GGTGTGTCCCGCTGACAACCTGCGGGCTGAAGGGCTCGAGTGT A/G CCAAAACGTGCCAGAACTATGACCTGGAGTGCATGAGCATGG
GCTGTGTCTCTGGCTGCCTCTGCCCCCCGGGCATGGTGAGTCACCAGGCACAGAGCTGGTGCCTGCCCTTCAGTTTTCTTGTAGGCAGGG
ATGAGTGAGGGGGCTGTGCAGCCAGAGAGAGGAAGAAACAAGGGCTAAACACGGATAGCAATGGAGGTGGTGCTGGTAATGGGGGCATGG
AGGAGGGGAGGCTCTTCTGTCTCCTCCCTGCCAAAGTCAGGGAGGGAGTTGTTAGGAAAATGCCTGGGGTTGATCCTCACAGGATCTGAC
AAAAATATAAGAACTTAGCTTACAGGAGTGCCATAGGAAGCAAAGAATTTCCAGAAAATACGTACTAGTAAAAACAAGCATTCCCACT-3
'

[Top]

RS ID: 216902 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele

Details:

Chromosome Reference Position
12 6105387

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAAAGCAACTGCCACCAGGTCCAGGTGGTTTTCCTGACATTCTATTGCCTTACCACGGATCCACAGAAAGTACTTCTCACCTCCAT
GTCACTGTGCAGCTCGACGGAGAGGGCACTGTGCTTCACCTCGATGGATTTCATGCAGCCCTGCCTTGCTCCAGGGCTGCAGGCACCATT
ATGGAGAATCACCTCCAGGTCCTGCTCCTTGTTTTGAAATAGGACATAAGAACAGCTGCCAGTCAGCTTGAAATTCTGCCCATCAAAGGT
CACGATGTGCCGAGTGGAGCTGCCTGTGCACAC A/G CCTGGACAGAGAGAAGCAGAGGATGGATGCGACGTTATCCAAACCCCCATGC
CTACTACATGCAGACAGGCAGGTGTGACCAAGTTGCACACAGATAAATACAGTAGAGAATGGAACAGGCCCTTTGAGGTCATATAGAACA
ATTTCCTCCTTTTTTTACAGATTAGGAAACTGGGGCTCTGAGAGGTAGAGAGGTTTAGGTAAGTAACACTTGGCCATTAAATATTTTCCT
GTTACATAAAATGTGGCAAATTATAGAACCACACTTCTAAAAAATTTAAATGTACAGTGTGAATAATC-3'

[Top]

RS ID: 216867 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6091000

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAATAAGCTTATAAAGGTAAAGACCATGTCCTGCACATTATTTGTAACCTCAGCACCTAGCCATGCTTAGTACATAGTAGGCTCACA
AGAAATGCCTCCTGAGTTAACTAAATTTCCACTCAGGCTGAGCTGGAATGCTGACTGCCCCCCAACCAAGCCTTGTAGCACTTGGTTTGG
GCAAGAAGGGAATGCTGGGTAGGATGCAAATCTTCCATGAGGAGCACATGTTGCTTAGCAAATATTGGATGGGTAGGTGGATGGATGAAT
GGATGGGTGGATAGAAGGATAAACTGACAGCAATAAATAAATGAGTAAACTATTAACTGATAGTTAATAGCCAAGCAGTCCTTACCTTGT
CGGGAAGGCAGGTGGTTGTGGTACAGCCACAGTCATTGGTGGC A/G GTTGAGGCCAAGTACCCAAGGGGACAGCTCACTGTGGAGTTG
ACACAGTTGCAGGCACACTCATACTCATCACAGCACTGGGTCTTCCGAAGGGTGGGCAAACGGTGCGGGGGGCAGGAGGGTGGGGACACT
CTTTTGCACTCCTCCTTCCTGCAGGCTGAGGGTAGGACAAGGCCACACTGAGCACTGCGCCCAGCCAGGGCTCGTAAGTATTCAGCTATG
CTATAGGGTGCCAGGGAGCTTTAGACTCAGAAGATTAAGTCAGAAATGTGTGAGGGCCAAGCTCACGGGCTGGGAGTTATTCAATGTTAC
CAAAAGCAGTCCATCTGCAGAAAAATATGAACATTAATCAAAAAGGGAAATGTGAAGCTAGGAACTCTAATGGAGGAGAAGTGAAGGC-3
'

[Top]

RS ID: 216321 Link_out

Alleles: C/T

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By hap map

Details:

Chromosome Reference Position
12 6143984

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCCTTTCTCCCACACCAATCCTCAACAACAAACAAGCTTCTGTCTCGTTTTATAAGTCCCCAGGTGAGCAGAGGGAAAATGGACAA
CCACTTTGAGCTTCAAATCCCCTACCGCTTCAGGCACTTCTGTGAAGGACTGGGAAGTACTCCAGTAGAAACCAGACCCCAGAGTTGTTT
CTGCAGACAGATCCACAGAACCCAACCTGAGGCCACACCTCCCACCCCTCCTAGAAAGAAACAGCACCCTCTCCCCATCTCCCCACCTCT
CACCTGCACCAGAACGTACTGGCACTCCCCGGGGAACAGGTATTTGAGCCCGTCGAAGGTGAGGTAGTGGGCCATGCCGATCGTGGAGCA
CGTGGCATCACACACATGGTCTGTGCAGTTCCACTTCCGGTCC C/T GACAGACACTAGGAGCAGTCATGGCAGAGATGACAAGTTGGG
CACCTTGGGTTTGAGGGGCCCATCTGGGCCATGGAGGCAATGAAGGAACACAGAATACTCTGGGTGCCTCCCAACCCTCCAGGAAGCCCA
AGGAAGTTGAGGACCTGTAGCGTGGAGTGTGGACTTCATAGGCCCAGTATGGTGCCCAGCAGGAGACAGGGAAGCCTAGTGGCTGTCCCT
AAAAGGGGGAAACTGAGGCAAAGAAGGGAAGGGGTTGTCCAAAGTGAGCCAGGCAGCCAGGGAGGAGGCCCGGATGCTCTTTAGGCCTCC
TGTTATGAATTCGCTCAGCCTCACCCTGAAAGCCACATCTACCTGAGATTGGCCACAGGGTGTCTGTAAAACAGACACACTGATGTTG-3
'

[Top]

RS ID: 216311 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
12 6128443

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000552 Link_out NP_000543 Link_out 1 T [Thr] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCCTTTGTGGTGGACATGATGGAGCGGCTGCGCATCTCCCAGAAGTGGGTCCGCGTGGCCGTGGTGGAGTACCACGACGGCTCCCA
CGCCTACATCGGGCTCAAGGACCGGAAGCGACCGTCAGAGCTGCGGCGCATTGCCAGCCAGGTGAAGTATGCGGGCAGCCAGGTGGCCTC
CACCAGCGAGGTCTTGAAATACACACTGTTCCAAATCTTCAGCAAGATCGACCGCCCTGAAGCCTCCCGCATC A/G CCCTGCTCCTGA
TGGCCAGCCAGGAGCCCCAACGGATGTCCCGGAACTTTGTCCGCTACGTCCAGGGCCTGAAGAAGAAGAAGGTCATTGTGATCCCGGTGG
GCATTGGGCCCCATGCCAACCTCAAGCAGATCCGCCTCATCGAGAAGCAGGCCCCTGAGAACAAGGCCTTCGTGCTGAGCAGTGTGGATG
AGCTGGAGCAGCAAAGGGACGAGATCGTTAGCTACCTCTGTGACCTTGCCCCTGAAGC-3'

[Top]

RS ID: 216310 Link_out

Alleles: A/G

Validation:

  • By cluster
  • By frequency
  • By submitter
  • By 2 hit 2 allele
  • By hap map

Details:

Chromosome Reference Position
12 6127943

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000552 Link_out NP_000543 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCATTGGGCCAGCCAATCCTCTCCAGCTCCTGCACGTTGGCATTAGGGCCCACTCCAATGGGCACCACCTGGATGTCTCCAGGCAG
CCTCTTGATCTCATCAGAGGCAGGATTTCCGGTGACCATGTAGACCAGGTTGGGCGCCTGCTCCCGGTCACCCTGGCTGACCAAGAAGCT
GTGGTCAGAGAGGTACCGCAGGGCCAGCCCAGTGTTGGTCCTGTTGCCGCCCTGGTAGCGGATCTCTCGCACCCGCTGCAGGATGTCCCC
TTTGGACTGTGCCTCGCTGAAGGGGTACTCCAC A/G GTCACCATGTAGGAGTACTGCAGCACCGTGACGTGGATGCTGTCCTGGCCCA
CATCCATCCGCTGAATCACCTCCTCCATGAACTCCTTGCTCCTGTTGAAGTCGGCTTCACCAATTTTGTCCGATCCTTCCAGGACGAACG
CCACATCCAGAACCATGGAGTTCCTCTTGGGCCCCAGGGTCGAAACCCCCAAGAGCCCCGGGCCCACAGTGACTTGTGCCATGTCGGGGG
GCAGAGTAGGAGGAGGGGCTTCAGGGGCAAGGTCACAGAGGTAGCTAACGATCTCGTCCCTTTGCTGC-3'