SNPJam Report for RYR1

Showing coding SNPs for RYR1 (Gene ID: 6261)

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: 80339408 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 39001328

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 F [Phe] / S [Ser]
missense NM_001042723 Link_out NP_001036188 Link_out 2 F [Phe] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCCCTACAGAGGCTGTGGTCAGCAGTGGGCGAGTGGAAAAGTCCCCACATGAACAGGAGATTAAATTCTTTGCCAAGGTGAGAGGT
GGGCTTAGAAGCTGGAGGGCGCTGGGGACTCATAGGCTCTCCCCACCCCTCATTGGACCCTTTATCTCCCCCAACCCGTCTCCAGATCCT
GCTCCCTTTGATCAACCAGTACT C/T CACCAACCACTGCCTCTATTTCTTGTCCACTCCGGCTAAAGTGCTGGGCAGCGGTGGCCACG
CCTCTAACAAGGAGAAGGAAATGATCACCAGGTGGGCCGCCTGTGACCCTGGACCCAGCCCCCTGACCTCACAGGATTGTAATCCTTTGC
CCATGGAGGCTCTGTCCTGGGTGCTGGGTGTTGGGTACTGACCGTCTC-3'

[Top]

RS ID: 80039127 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 39055715

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCCTTGTAGCTGCCACTGCGCTGTCGCTGCTGTCCGAGCCCCCGCTGACGGCGCCCTATCCTGTCTGCCGCCCCTCGCTTCAGGTG
AAGGAGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGAC
ACCATCTTCGAGATGCAGATCGC C/T GCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAGGGCGCGGGCGCGGC
GGAGGCGGGCGCGGAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCACGGCGGCCACGGCGGCGGCGGGGGCGACGGCGCGGGTTGT
GGCGGCCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTGCG-3'

[Top]

RS ID: 79294840 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38998362

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 D [Asp] / N [Asn]
missense NM_001042723 Link_out NP_001036188 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGAGGTGGGGCCAGAGAGGGGAGAAGGCTAAGTGGGGTGGGGCATGGGGGACTCAGAGTGGAGCCCCAACCTGGGGTGAAGCCAAA
GCTGATAGAGACGGGGCCAGCAGGAGCAGAGGCGGACCTGAGAAGGGTGGGAAACTGTAGGGCCGGCGTCTGGGCTGATCCTTCTCTCCA
CATCTCCATGCAGAGGCCTTAAG A/G ACATGGAACTGGACTCGTCTTCCATTGAAAAGCGGTTTGCCTTTGGCTTCCTGCAGCAGCTG
CTGCGCTGGATGGACATTTCTCAGGAGTTCATTGCCCACCTGGGTACGGAGAAATACCCCCCGCTTATGCCCGCCCCACCTGCAGACACC
AGTTCTGCAGACCAGACTCACCTAGGACACCTGTTCATGCACTCAATC-3'

[Top]

RS ID: 78915828 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38987117

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGAGACGGTCATGGAGGTCATGGTCAACGTCCTCGGGGGCGGCGAGTCCAAGGTGAGGGCCCAGGCAGGTGCTGGGGAGCTCAGGG
GAGGCAGCCACAGAGGGCAGGCCCTGACCACCCTGCCTGTCCCAGGAGATCCGCTTCCCCAAGATGGTGACAAGCTGCTGCCGCTTCCTC
TGCTATTTCTGCCGAATCAGCCG A/G CAGAACCAGCGCTCCATGTTTGACCACCTGAGCTACCTGCTGGAGAACAGTGGCATCGGCCT
GGGTGAGAACCCCCGAGCCCAGGGGCTGTCCCCCAGAACCCACTCCTGGCACCCCGTCCAGGCCTGCCCCACTTTCCACCAGCTCACTCA
TTCAACAAACACTCCCTCTCAACTGTGGTTCTGGCCCTGTAATGAGTA-3'

[Top]

RS ID: 78835441 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38948769

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGGAAGGCACCACGCAGTACAGCAAATGGTACTTTGAGGTGATGGTGGA C/T GAGGTGACTCCATTTCTGACAGCTCAGGCCAC
CCACTTGCGGGTGGGCTG-3'

[Top]

RS ID: 78795178 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38990456

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCA
GGGACCGGCGGCG C/T GAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAAC
CCACCCACCTTCCCTGCAGCTTTGGTGA-3'

[Top]

RS ID: 78349583 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38974063

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 V [Val] / A [Ala]
missense NM_001042723 Link_out NP_001036188 Link_out 2 V [Val] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGCTGATGCCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGG C/T GGAGACGAGGCGTGCCGGCGAGCGGCTGGGCT
GGGCCGTGCAGTGCCAGG-3'

[Top]

RS ID: 78230110 Link_out

Alleles: G/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 39056287

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 V [Val] / G [Gly]
missense NM_001042723 Link_out NP_001036188 Link_out 2 V [Val] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGCGACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGG
CGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGCGCTGGAGACGAGGAGGAGGCGGTGCACGAGGCCGG
GCCGGGCGGTGCCGACGGGGCGG G/T GGCCGTGACCGATGGGGGCCCCTTCCGGCCCGAAGGGGCTGGCGGTCTCGGGGACATGGGGG
ACACGACGCCTGCGGAACCGCCCACACCCGAGGGCTCTCCCATCCTCAAGAGGAAATTGGGGGTGAGAGAGCAGGCGGGGTTTTGGGGTT
TTGGAAAGATGGGGGATTGGAGGGAGGAAGAGAGCCCGGCTGGGTGGA-3'

[Top]

RS ID: 77654389 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38939402

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCA
GGACTGTGGCTCAC C/T TATGCTGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGTGTAATCCCAGCTAC
TCAGGAGGCTGAGGTGGGAGAATCGCTTGA-3'

[Top]

RS ID: 77310009 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38990614

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCCGCC
CTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGA
CACGCCATCATGTCCTTCTATGC C/T GCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCATGTGAGACCCTGAGCCAGGGC
AGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGAGCTCCCATATGTGGGTGGTCC
TGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGG-3'

[Top]

RS ID: 77216903 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38995999

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCC
AGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGTCCTATGGAGAG
AACATAGACGAGGAGCTGAAGAC C/T CACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGC
ATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGGATCTGTGGGTT
AGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTG-3'

[Top]

RS ID: 76854339 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38939091

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGGACCAGGGCCTGGT C/G GTGGTTGACGCCAGCAAGGCTCACACCAAGGC
TACCTCCTTCTGCTTCCG-3'

[Top]

RS ID: 76537615 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38974116

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 P [Pro] / S [Ser]
missense NM_001042723 Link_out NP_001036188 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGACGAGGCGTGCCGGCGAGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAG C/T CGCTGACCATGATGGCGCTGCACATCCCCGAG
GAGAACCGGTCAGGGCCA-3'

[Top]

RS ID: 75991872 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39008084

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGGGGGCTGGC C/T GAGTCAGGTGCCCGCTACACAGAGATGCCGCA
TGTCATCGAGATCACGCT-3'

[Top]

RS ID: 75691669 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39002990

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGC
CCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAG
ATGGTGGAGAACCTGCGGCTGGG C/G AAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGT
GGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAA
GGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGC-3'

[Top]

RS ID: 75181912 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38985101

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 Y [Tyr] / Y [Tyr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGGGCCCCTTCCACATTGTTCTGGTCCAAGGCCCCATGTGCCGACCTGCCCTGCATGGTGCTCCAAGCCTTGCATTGTCTCCTTC
CCAGGGTCCCTGCAGGAGCTGGTGTCCCACATGGTGGTGCGCTGGGCCCAAGAGGACTTCGTGCAGAGCCCCGAGCTGGTGCGGGCCATG
TTCAGCCTCCTGCACCGGCAGTA C/T GACGGGCTGGGTGAGCTGCTGCGTGCCCTGCCGCGGGCGTACACCATCTCACCGTCCTCCGT
GGAAGACACCATGAGCCTGCTCGAGTGCCTCGGCCAGATCCGCTCGCTGCTCATCGTGCAGATGGGCCCCCAGGAGGAGAACCTCATGAT
CCAGAGCATCGGGTGAGACACCGCCCTTCCCCCTTACTTTGCATATCC-3'

[Top]

RS ID: 74785476 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38964373

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 3 N [Asn] / K [Lys]
missense NM_001042723 Link_out NP_001036188 Link_out 3 N [Asn] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGC
TCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCGGGGGGAGAG
GCGCAGCCCGCCAGGGCGGAGAA G/T GAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTG
GGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCT
AAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCC-3'

[Top]

RS ID: 73933023 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 39057615

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 P [Pro] / L [Leu]
missense NM_001042723 Link_out NP_001036188 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCTCGATGAGCCTCAGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTAC
CCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCC
TGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGC C/T GGAGAAAGCCGA
GTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCC
TGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAA
CCTGGGCAACATAAAAAAAAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGC-3'

[Top]

RS ID: 63749869 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39071080

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 R [Arg] / H [His]
missense NM_001042723 Link_out NP_001036188 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCCCTGCCTTCCCCCTGACCCCTGGCCCTGTGTGCCCACAGTCCTTCCTGTACCTGGGCTGGTATATGGTGATGTCCCTCTTGGGA
CACTACAACAACTTCTTCTTTGCTGCCCATCTCCTGGACATCGCCATGGGGGTCAAGACGCTGCGCACCATCCTGTCCTCTGTCACCCAC
AATGGGAAACAGGTGTGGGGAGGACCTGGCTGTGGGGCGTGGGCCAGCAGGGACCAGCGTGGCAGTGGGTGGTGAAGGGATAAGGGCCGG
GCAGCTGGGCTGAGGAGGGGCAAGGCCAGGTGCGCTGAGCCGGGGGTGTGTGGGGCAGCAAGGTAGAGCCACAGGGACTGAACCGGGGCC
AGGACCCAGCATGGGCAGGGTGGGGGGAGGGCAAGCCCAGGGCGGAGCTGACCTGGCCCCATCCTGCCCCCAGCTGGTGATGACCGTGGG
CCTTCTGGCGGTGGTCGTCTACCTGTACACCGTGGTGGCCTTCAACTTCTTCC A/G CAAGTTCTACAACAAGAGCGAGGATGAGGATG
AACCTGACATGAAGTGTGATGACATGATGACGGTGAGCCCCTCCCCTAGCACTCTGGGACCCTTCCTTCTCGCATCTGTTGAAGGAGTTA
ATAATGGTACCTCCAGGCCGGGCGTGGTGCCTCCAGCCTGCAATCCCAGTGCGTCGGGAGGCCGAGGCGGGACGATTACTTGAGTCCAGG
AGTTGGAAACCAGCCTGGGCAACAAAGCAAAAATCCTGTCTCTATAAAAAAAAATTTAAACGTTAGCTGGGTGTTGTGTTGTGTGCCTGG
AGGCTAAGGCAAGAGGATCACTTGGTCCCAGCAGTTTGAGGCTTTAGTGAGCTACGAATGGGCCACTACACTCCATCCTGGCAGACAGAC
AGAGACCCTATCTCTAAAAAATGAAAATAGTACCTACAGTTTGGCAAGCTGATGCATGCCAGGCACATTTTTTTTTTTTTTTTTTGAGAT
GGAGTCTCACTGTGTTGC-3'

[Top]

RS ID: 62119053 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39034425

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCATCAGCGACTTCTACTGGTACTACTCGGGCAAGGATGTCATTGAAGAGCAGGGCAAGAGGAACTTCTCCAAAGCCATGTCGGTG
GCTAAGCAGGTGTTCAACAGCCTCACTGAGTACATCCAGGTAGGGCGCTCCCCCTGGGGCGGGAGTGGGAAGGGAGGGGGTCCCGCATCG
TGATCCCTGATCCCTTCTCGGGGATTCCCTTCCCCCCCACACGGCACTCTGCCTCCCAGGGTCCCTGCACCGG G/T AACCAGCAGAGC
CTGGCGCACAGTCGCCTATGGGACGCAGTGGTGGGATTCCTGCACGTGTTCGCCCACATGATGATGAAGCTCGCTCAGGTTCGAGCCCCT
CTGGTCTCCATCCACCTGCTTCCGGGCGTCCCCCAAGTGGTCCATTTCCAAGTCTTGCCCCTTTGGTCAGTTTGTCACCCGAGTGCTCCC
GGCATGTTCCAGACTGGTTCCCTCTCAGTGGCCAAATCCATCCTCTTTCTGGATTGGC-3'

[Top]

RS ID: 61750975 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38979834

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCACAGTGAAGAACCGAGACTTTGTCCTGTAGGTGATGGGCATCTTTGG C/T GATGAGGATGTGAAACAGATCTTGAAGATGAT
TGAGCCTGAGGTCTTCAC-3'

[Top]

RS ID: 61739911 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39003006

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 R [Arg] / C [Cys]
missense NM_001042723 Link_out NP_001036188 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCG C/T GCACCCAGGTGAAAGGCGTGGGCCAGAACCTC
ACCTACACCACTGTGGCA-3'

[Top]

RS ID: 61739895 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39052058

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCGAGATCATGGGCGCGTCACGCCGCATCGAGCGCATCTACTTCGAGAT C/T TCAGAGACCAACCGCGCCCAGTGGGAGATGCC
CCAGGTCAGGGAACCCGC-3'

[Top]

RS ID: 61729397 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39028536

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTCCTGGGCCCTGTCCCCTCCCTTCCACCTAGGAGAGAAGGTCATGGC A/G GATGATGAATTCACACAAGACCTGTTCCGATT
CCTACAATTGCTCTGTGA-3'

[Top]

RS ID: 59468283 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39062759

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 A [Ala] / D [Asp]
missense NM_001042723 Link_out NP_001036188 Link_out 2 A [Ala] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGGTATGGTCCCAGTCCAATCTCGGGAATGGAGGCTCAATTTTGTGAGTGGGCTCTGCATGTGGCAGACCCACAGATGAATCTCT
GTCCCCATTTCAGGTCTCAGACTCTCCACCAGGGGAGGACGACATGGAAGGCTCAGCTGCTGGGGATGTGTCAGGTGCAGGCTCTGGTGG
CAGCTCTGGCTGGGGCTTGGGGG A/C CGGAGAGGAGGCAGAGGGCGATGAGGATGAGAACATGGTGTACTACTTCCTGGAGGAAAGCA
CAGGCTACATGGAACCCGCCCTGCGGTGTCTGAGCCTCCTGCATACACTGGTGGCCTTTCTCTGCATCATTGGCTATAATTGTCTCAAGG
TGGGCCCATGGCCATGGTTCTGGGGCAAGGGCTTATTGGCTGGGTGGGGGTGGGGGCAGTGCTGGAGCACTGGCTGGGGCTGGGGGCCCT
CAAAGTGGTTGGGACAGAGGGGGCCTAGGGTTGGGGTGAGGGCTGGGGAACTGGGTACAGGATTGGGGTCTCCAGCAAGGATGACAGGGG
TCTCCAG-3'

[Top]

RS ID: 56338790 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39002912

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTAGCATTCC
AACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATGGCATCCC
CCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCCAGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGG
CCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCC
CCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGAT C/T GTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAG
GACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTAC
ACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCC
TGACCCAAGGGCAGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGAT
TTCTTGCTGTAAGCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCTAACAAAAG-3
'

[Top]

RS ID: 55876273 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39018347

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001042723 Link_out NP_001036188 Link_out 1 E [Glu] / Q [Gln]
missense NM_000540 Link_out NP_000531 Link_out 1 E [Glu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTACTAAAAATACAACAATTAGGCCGGGCACAATGGCTCATGCCTGTAATCCCAACACTTTGGAAGGCCAAGGCGGGCAGATCACC
TGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAGTACAAAATTAGCTGGGTGTGATGGCGGGTG
CCTGTAGTCCCGGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTG
CACTCCAGCCTGGGTGATGGGGCGAGGCTCCGTCTCAAAACAAAAAGATGAAGAAGAAGAAAGGCCTCAACATGCACTCACCCATTGAGT
CCTCCCAAAAACGGAAAGGGGACATCCGGCGGACACTGTGGGAAGGGTCCCTCACGCCGGCCACTCCTTCTTCCTCCCTTCAGGTCGAAG
GCTCCCCGTCTCTGCGCTGGCAGATGGCTCTGTACCGGGGCGTCCCGGGTCGC C/G AGGAGGACGCCGATGACCCCGAGAAAATCGTG
CGCAGAGTCCAGGAAGTGTCAGCCGTGCTCTACTACCTGGACCAGGTGGGTGGGGCCGGAGGGGTCTTTCTACTGGGTCTCTGGGCGGAG
CCTGGCGGGGGGAGGGGCTTCAAGGATGTGGGTGGGGTCTGGAGATGACTATTAAGTTTTGGGGCAGGGCAGGAGGTG-3'

[Top]

RS ID: 45613041 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 39034051

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTGGGCC
TCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCCGGCCAGTATTTTTAGACAAATGAATAAATGATCATCCATCTTTCTCTGTCACATA
GTAAGTACTTGATAGTTATTAAATAAATTGATGATGATATGCTTTCTGGCATACAATAGGAACTCAACACATGAGTATTGCATAAATGAA
TAAATGACCCACTGTTCATCTCCCCTAGCACATGGGAGGTGCTGGATAAATGACTTTTCATCTCCCCAGATTTCCAGAACTACCTACGGA
CACAGACAGGGAACACGACCACTATTAACATCATCATTTGCAC A/T GTGGACTACCTCCTGCGGCTGCAGGTGAGGACGTGAGACGGT
TCAGGTGTGACTTGGGTCGGGGGCTGCAGGGCCATGGTCGGCCCCAGCACCCCCTCACACCCTACCCGCCCCCACCAGGAATCCATCAGC
GACTTCTACTGGTACTACTCGGGCAAGGATGTCATTGAAGAGCAGGGCAAGAGGAACTTCTCCAAAGCCATGTCGGTGGCTAAGCAGGTG
TTCAACAGCCTCACTGAGTACATCCAGGTAGGGCGCTCCCCCTGGGGCGGGAGTGGGAAGGGAGGGGGTCCCGCATCGTGATCCCTGATC
CCTTCTCGGGGATTCCCTTCCCCCCCACACGGCACTCTGCCTCCCAGGGTCCCTGCACCGGGAACCAGCAGAGCCTGGCGCACAGTCG-3
'

[Top]

RS ID: 41274330 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 39010053

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 Y [Tyr] / Y [Tyr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAGGGACTATATCCAAGGTTAGGGTCAGGCTGG
GGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTTTGGGGCCTGTGTCAGAGGCCGGAGGTGGCA
TCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGGAGCTCCTGCAGTCCCACTTCATCCCAACTA
TCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGGAGGCCAAGGCGGAGGCCCAGGAGGGCGAGC
TGCTGGTGCGGGACGAGTTCTCTGTGCTCTGCCGGGACCTCTA C/T GCCCTGTATCCGCTGCTCATCCGCTACGTGGACAACAACAGG
TCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCATCTGATCTCCGCCTCCTGACTGGCTAGAAA
CTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCTTTGAGCACATTGGTCCAACGACAGCCAGCC
CACTTGTTTGTTTCTTTTTGTTTTTGGTTTTTGGGTTTTTTTTTGTTTGTTTTTGTTTTTGGAGACAGAGCCTCGCTTTATTGCCCAGGC
TGGAATGCAGTGGCGCGATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCCAGTAGCTAG-3
'

[Top]

RS ID: 36094657 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39078057

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 3 S [Ser]
missense NM_001042723 Link_out NP_001036188 Link_out 3 S [Ser]
near-gene-3 NM_007181 Link_out Not Applicable Not Applicable Not Applicable
near-gene-3 NM_001042600 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCTGGAGACTGAGGTGGAGAATCGCTTGAGCCAGGAGGCTGTAGTGAGCTGTGA
TTGTCGCCACTGCACTCCAGCCTGGGCAACAGAGCAACACCCTGTCTAAAAATATATATATATATATGTCTCAAGGGTTTGAAGATGTGA
CCAATGAACTCTTTCTATCCCCAATCCTAGGAGTCTTATGTCTGGAAGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGAT
TGTTTCCGTAAGCAGTATGAGGACCAGCTTAGC -/T TGACACACCCCCAGCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCAC
AGCAAGCCCCTTAGTCCCCAAGCCCCTCCCCCTAAGGCAGCTGGGGGAGAGGTGACCTAGTACTGGAAAATAAATCTGTGCTACGCCCCC
CAGCATCACTGTGTTGGCCTGCTGAAATTTTGGAGGAGTGGACATCCAGGAATTGTTTCCCCCAAGAAAAACAAGATGACAGCAGAGGCT
AAAGTCATGTTTATTGGGAGATGAGGACATGCCATGACCACTAGTGTGTCTATGGGGGAGGGGGTGCA-3'

[Top]

RS ID: 36042816 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38966054

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTAACTCAGCATCCACAAGCGCAGAGCATAGCACTTCTAGAATGGATTAGTCTGGGGTAGGTGGGAATCCAGCCCTCTAGAGGC
AAGACCTGGGGTATTAGAAGCAGGGTGTATCCAAGCTGGATGTGGGGGCATGAATATTGCGGTGGGAGGGCTGGGCTTGAAAGCTGGCTC
TCATGGCGCCTCTCCTCCCACTACCAGCTTCTTATTCAAGGCCAAGAAGGTCGCCATGATGACCCAGCCACCGGCCACCCCCACGCTGCC
CCGACTCCCTCACGACGTGGTGCCTGCAGACAA C/T CGCGATGACCCCGAGATCATCCTCAACACCACCACGGTGTGGACCAGTAACC
CTCAATTTTGGGGTCCCCCCGCATAGCATAGGCACTCCTGAATTTCCAAGTTTAGTGTGACAGTCCCCAGTAGCTGCCCACCTTACACTG
GGGACTCCCCAATATACACTAGAAACTCATAAAATATGGCACACACAGATTTAATCCTTTGAACCCCTAAATCCATATAGCTATGGCCCA
CAAACGGCAGGGAGTACAGTAGAGGTGTACAGCACACTGATATAACTCCTGGGGATCCCCAAAGCCAT-3'

[Top]

RS ID: 35959206 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 39061258

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCGGCAGCAGAGGAATTGCTTGAACCCGGGCGGCAGAGGTTGCAGTGAGCCAAGA
TCGCACCACTGCACTCCAGCCTGGACGACAGAGCAAGACTCTGTCTCAAAAATAATAATAATAATAATTAATAAATAAATAGGAGGTTGT
AGGAAAGATATTGAGAGCCCAGGTACTTTGATTGCAGGTAAATGATGGGATGAATTCTCCAGGGAAGAGGCTGATCTGTGAGCGCTTTCT
CTCTTTTTCTCTTCTCTCTCAGAACTACCTGTC C/G CGGAACTTTTACACCCTGCGGTTCCTTGCCCTCTTCTTGGCATTTGCCATCA
ACTTCATCTTGCTGTTTTATAAGGTGCTGGTCCTGAAGGGCTGGGAGGGTCAGGCCCTTTTCCATGCTGTGGGATGGGAGGCTCAGCCCC
TATCAGAATTTCAGGGTTCCTCCACTGAAGGGATAAGGTATTGGGCTTTGGGTCGTTAGGAGGGTTCAGGCTGGACACCTGGATCCTGGG
ACCCCCCTCCATGGGGGTGAGTAGGGGATATCTGGATCCATCTGGGACAGAAGCCTGAGTGTCTGTGG-3'

[Top]

RS ID: 35869497 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38964341

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 G [Gly] / W [Trp]
missense NM_001042723 Link_out NP_001036188 Link_out 1 G [Gly] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTC
CCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCC
CGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCG
AAGGAGGGCGCCCCCGGGGGCACCCCGCAGGCG G/T GGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGA
GAAGAACAAGAAGAGAGGGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACC
TGAGAAACCCCCATTGTACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCC
CATTATTTTCCTGGGATGCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGA-3'

[Top]

RS ID: 35719391 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38958397

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 R [Arg] / K [Lys]
missense NM_001042723 Link_out NP_001036188 Link_out 2 R [Arg] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCAATTCTCCTCTAACTCCAAGAAATTGACCCTCTTCCAACAGTTCCCCAAAGCCCTTACTGTCCCCCAAAGCCTGTCTTCTACCA
ACTTCTCGATGTCTTGGGATCCACATCTTCCCTAGCCTCTCTGACTCTGCCTGGCCTCATTTATAGGTCAGGTGGAGAACCAGTCTCGTT
GTGACCGGGTGCGCATCTTCCGGGCAGAGAAATCCTATACAGTGCAGAGCGGCCGCTGGTACTTCGAGTTTGAAGCAGTCACCACAGGCG
AGATGCGCGTGGGCTGGGCGAGGCCCGAGCTGA A/G GCCTGATGTAGAGCTGGGAGCTGACGAGCTGGCCTATGTCTTCAATGGGCAC
CGCGTGGGTACCTCCCTGGGCACCATTCTGCCAGGTCCTGTGGTCTCTCCCACAGCTTGTCTACTCTGGCCCTGCCTCTGTCTGTGCCTC
ACTCTGTCCCCACTTCATGCATCTACTGTACCACTCATCCACCCATCTATCCATCCATTCAACCAATGATTCATCCATCCATCCATCCAT
CGATCTATCAGACATCCATCTATCCAACCAACAATTCATCCATCCATCCATCCATCCATCATCCATCC-3'

[Top]

RS ID: 35566549 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38976629

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCG
CGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCT
CACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGT
CACCACTTCGCTGAGGCCCCCGCATCATTTCTC G/T CCCCCCTGTTTCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGG
CCCGCCTCAGCCCTGCCATCCCGCTGGAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACG
CTCGCGACCCCGTCGGGGGCTCCGTGGAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCT
TTCCTCTGTCCCATTCTTCTCCCACATTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATT-3'

[Top]

RS ID: 35512081 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38991347

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 Q [Gln] / Q [Gln]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 Q [Gln] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGTTGGGGGGAACAAGGAGAGAGGTCGGGACTGGGGTGGGGGGGCACAGGCAGAGGAACGAGGGCTGGAAACTCTAGACAGCCTC
CTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCC
TCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGA
GGACCTTGTGGGCATCATCAGCCTCCCACTGCA A/G ATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGA
TGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCA
GCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTG
CTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCA-3'

[Top]

RS ID: 35480887 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 38973941

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCTCGTCCTCTTCTCCTCTGCCAGGTGGAACCCAACACTAAGCTATTTCCTGCCGTCTTCGTCCTGCCCACCCACCAGAACGTCA
TCCAGTTTGAGCTGGGGAAGCAGAAGGTACAAGTGCAGTGATGGGGGCACTAATGGGGCCAGGCTGAGGCAGGAGATGTGGGGAGGCCAG
GCGGGCAGAGCCACTGAAGGGGAGGGGGCAATCCAAGAGGTCTCCCTGGAAGTGGTGTGGTGGGACAGAGGGGGCTGGCCATCTTGACCC
ATGTGTGTCTCTCTGCCCTCAGAACATCATGCC A/G TTGTCAGCCGCCATGTTCCAAAGCGAGCGCAAGAACCCGGCCCCGCAGTGCC
CACCGCGGCTGGAGATGCAGATGCTGATGCCAGTGTCCTGGAGCCGCATGCCCAACCACTTCCTGCAGGTGGAGACGAGGCGTGCCGGCG
AGCGGCTGGGCTGGGCCGTGCAGTGCCAGGAGCCGCTGACCATGATGGCGCTGCACATCCCCGAGGAGAACCGGTCAGGGCCAGCCCAGC
TATGCAGGGGTGGGCAGGTGTTGCAAGCCCTCTGGGGTCTGGGTCCCACTCAGTGCCCCTCCTCAACA-3'

[Top]

RS ID: 35364374 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38983180

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 G [Gly] / C [Cys]
missense NM_001042723 Link_out NP_001036188 Link_out 1 G [Gly] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATGGCTTGAGCCTAGGAGGCAGAGGTTGCAGTGAGTTGACATCATGCTAC
TGCTCTCCACTGCAACAGAACAAGACACTGTCTCAAAAAAAAAAAAAAAAAGGAAATGAAAAACTCCATGCATGCATGCACATATGCACA
AATAAATGAGTGTGTAAGCAGGTGAATAAGCAAACTAATGAATGACATTTCCCGCCTTCTTGACCACTTCCAGGAATTCAGCTAGATGGA
GAGGAGGAGGAACCAGAGGAAGAGACCACCCTG G/T GCAGCCGCCTCATGAGCCTGTTGGAGAAAGTGCGGCTGGTGAAGAAGAAGGA
AGAGAAACCTGAGGAGGAGCGGTCAGCAGAGGAGAGCAAACCCCGTGAGGACTGGGGTCACTGGGGAGAGGGCAGGGGTGGGGTGGGTAG
CCCCATGCCTGCGGAGCCTCTGGGTCCCAAAGAGGGCATGAGGACAGATGCAAGGGAGGGGTAGATAGGCAGGAGTGAGAGGGGAAGAGT
GGCGGGCAAAGTGGAAGCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCG-3'

[Top]

RS ID: 35352076 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 38976407

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAAGGAAAGACGAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCAT
TCATCTGTCCCTGTCTGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTC
GCACACCCTGCGCCTCTACCGCGCTGTGTGCGCCCTGGGCAACAATCGCGTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCT
GCTGCACGCCCTGGAGGACGCGCACCTGCCAGG C/T CCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTG
CCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGA
GCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCCCCCTGTT
TCGTGGCCGCTCTGCCAGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTG-3'

[Top]

RS ID: 35189056 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38942421

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGAGAGATAGAGAGGGAGAGGCAGGGACAGAGGTGAGAGAGATAGAGAGACAAAGACAGACAAAACCAAAAACAGGGACAGAGAGA
GACAGAGAGGAGAGAGAGAATCAAAGACACAGAGGAGACAGATGACGGGGGACAGAAAAATGAGGAGGAATTTGCAGTGAGATTCTGCAG
AGCAGGGAGGAGGGGGCAAGTGCAGAACTCAAGTCTAGACAGACGTCTTGGGGGCATGGCCCTGGGTGGCTGGGCCCACTCCAGACCTCT
GTCTCCCCACTCCTAGGCCATGCTGCACCAGGA A/G GGCCACATGGACGACGCACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCC
AGGCCGCCCGCATGATCCACAGCACCAATGGCCTATACAACCAGTTCATCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCCTGTG
CTGTCCCATGCTCCGGGCATCCATACACTTGGCCTCTTTCATCTCTACCTCTGTTGCCCACACCCTTGTCTAACATATACATGGGCCAAG
CGCAGTGGCTCACACCTGTAATCCCAAGACTTTGGGAGGGCAAGGCATGAGGATCGCTTGAGCCCAGG-3'

[Top]

RS ID: 35180584 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38995998

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 T [Thr] / S [Ser]
missense NM_001042723 Link_out NP_001036188 Link_out 2 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGT
TCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCC
TCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCATCTCTAGATCCAGAACAACTGGT
CCTATGGAGAGAACATAGACGAGGAGCTGAAGA C/G CCACCCCATGCTGAGGCCCTACAAGACCTTTTCAGAGAAGGTGACCAGGCCT
TGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAATTTCACATGTTTGCATCTAGGTGG
ATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGACTCCGAGAGAGTGGGTTTGATTC
CTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGATAAGGAGATTGGGTTTGGGAGGC-3'

[Top]

RS ID: 35021937 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38979891

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGTGGTCTGGGCTGTGTGGGTGGGACACAGGGTGTGGACCTGGGTGGATCTTAAGGAGGGTGGATGGCAAGGCGGGGGATGCCAT
TCCTGCTGTGGGAGGAATCGGATCAGCCAATGCAGGAATGATTGGCATGTGCATGAGGGGCAGGTCTGGAGAATGAGGCCAGGGCCTGAT
GATGGAGGCCTTGCAGGCCACAGTGAAGAACCGAGACTTTGTCCTGTAGGTGATGGGCATCTTTGGCGATGAGGATGTGAAACAGATCTT
GAAGATGATTGAGCCTGAGGTCTTCACTGAGGA A/G GAAGAGGAGGAGGACGAGGAGGAAGAGGGTGAAGAGGAAGATGAGGAGGAGA
AGGAGGAGGATGAGGAGGAAACAGCACAGGAAAAGGAAGATGAGGAAAAAGAGGAAGAGGAGGCAGCAGAAGGGGAGAAAGAAGAAGGCT
TGGAGGAAGGGCTGCTCCAGATGAAGTTGCCAGAGTCTGTGAAGTTACAGGTGGGCTGCTGCTTCCTGCTTTTCGGCCTCTGTCCATCTG
GGCTGGGAGACACAGGGTAGGTGGGATGTGAGTCTGGACTTCGTCCTCAGGCAGTGGGGAGCTGTGGA-3'

[Top]

RS ID: 34934920 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38976655

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 P [Pro] / L [Leu]
missense NM_001042723 Link_out NP_001036188 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGTAGACCAAGCTCAGCTGCTGCACGCCCTGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCA
GCATCCACCTCGAAAGTGCCTGCCGCAGCCGCCGCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGC
TCTTCCCTCCTGGAAGGAGCACAGAAAATGGTCACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATC
ATTTCTCGCCCCCCTGTTTCGTGGCCGCTCTGC C/T AGCTGCTGGGGCAGCAGAGGCCCCGGCCCGCCTCAGCCCTGCCATCCCGCTG
GAGGCCCTGCGGGACAAGGCACTGAGGATGCTGGGGGAGGCGGTGCGCGACGGTGGGCAGCACGCTCGCGACCCCGTCGGGGGCTCCGTG
GAGTTCCAGTTTGTGCCTGTGCTCAAGCTCGTGTCCACCCTGCTGGTAATGGCTTCCTCCTGCTTTCCTCTGTCCCATTCTTCTCCCACA
TTCCCAAAACTCCAGAGATACATGCATCAATCCTCCTCTATTTATGCATCCAACCACCCATTCATTCC-3'

[Top]

RS ID: 34694816 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38964275

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 S [Ser] / G [Gly]
missense NM_001042723 Link_out NP_001036188 Link_out 1 S [Ser] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCGCCTGCCCAGCCCAGTACTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGC
CTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTC
CGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGAC
TACGAAAACCTGCGCCGCTCAGCTGGGGGCTGG A/G GCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGGGGG
CACCCCGCAGGCGGGGGGAGAGGCGCAGCCCGCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAGGGTGAGT
CGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGTACCCCAA
AGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCA-3'

[Top]

RS ID: 34404839 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38969086

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 S [Ser] / N [Asn]
missense NM_001042723 Link_out NP_001036188 Link_out 2 S [Ser] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCTTCTCCTTCTCTGTCATCTCATTCTCTCTCCTCCTGCTTCCCTTGCTTTCCCTCCTTTCAGACCCCCACCCCCATCCTGACTC
CCCACTGCGCCAGCTGCTAGGAATCCCAGCTCCGAAGAGCTCAGTGTCCGGGGCGAGGGGTTTCAGCTCTCAGGTCTGCAGGCGGTGGGT
GTTTGGGGATGGGACTCTGAGGTTGTGTGTTTCCGGGAGCTTGGGGAAGGGGGTGTCCAGGGTCCAGAGCTACTCACATGAGGAGTGCAG
TGACCGCTTCTGTCTCCTGCAGCCTCAAGTGTA A/G CAACTGCTACATGGTGTGGGGCGGAGACTTTGTGAGTCCCGGGCAGCAGGGC
CGGATCAGCCACACGGACCTTGTCATTGGGTGCCTGGTGGACTTGGCCACTGGCTTAATGACCTTTACAGCCAATGGCAAAGAGAGCAAC
ACCTTTTTCCAGGTGAGTCCAGGCCACAGCAATTTAGCGAGAGCATCATGTCCCAGCATCCCAGGACAGCTCTTATAGATGTCCCCTGAG
GCCAGACCTCAGAGATGGAACAAAAACAGCTCCTAGGCTGTCCTCAAGAGGTCGCTGGGAGACCACCT-3'

[Top]

RS ID: 34390345 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38989817

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 I [Ile] / V [Val]
missense NM_001042723 Link_out NP_001036188 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTAGAATGCCTTAACCATCTGGGAATGCAGCCCAGTAGGTCTCAAGCTCCTGTTCAAGATGGAGTTGCTGTAGTTTACAGGCCTCT
GACAGGACCAGGGCTAATGGGCCGAGGGATCAGAGCTGAACCGGACTGAGGAGCCGCAGGGCAGGGCAGGGCAGGGCAGAGGGCTGAGCC
CCAGGAGGAAGGTGGCATGGGTCTGGTCTCTGACTGAGCCCCTTCTGCCCCCAGGTTGTGTCCTACCTGGCAGGCTGTGGCCTCCAGAGC
TGCCCCATGCTTGTGGCCAAAGGGTACCCAGAC A/G TTGGCTGGAACCCCTGTGGTGGAGAGCGCTACCTGGACTTCCTGCGCTTTGC
TGTCTTCGTCAACGGTGAGGAGGGGGTGGCAGTGGCAGAGCGGGAAGTATGGAGTCACTGGTCACACACCTCCCTCGAGATGACTGCTCG
CACCCTGAGCCACAGATGGGGTCCAGGCAGGAATCCCTTCCAGCAGGCCTGGGGCTGGCAGGGGCCTGTGTTACCCCTGGAGGTGTTGGG
TCCTGTGGCTGGCAGTGTTGGATCCTGGGGCTGGCGGGAGCCTGGTGTTACCCCTAGAGGTGTTGGGT-3'

[Top]

RS ID: 34169029 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38976332

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTTTCTGGGGTCTGTGCCTCTGTCTCCCATCTTCTCCCAGGATGGGTGAATTGATAGATGGAATGGTAGGGGTTTGAAGGAAAGAC
GAATGAATAAATGGGTGGATAGTGATGAAGGAAATGGAGGAAGAGATGGTGGCTTGACTGATGCAGGAGGCTCATTCATCTGTCCCTGTC
TGTTTCCCACCTCTGCTGCAGGTGCATGGACATCCTGGAGCTGTCGGAGCGCCTGGACCTGCAGCGCTTCCACTCGCACACCCTGCGCCT
CTACCGCGCTGTGTGCGCCCTGGGCAACAATCG C/G GTGGCGCACGCTCTGTGCAGCCACGTAGACCAAGCTCAGCTGCTGCACGCCC
TGGAGGACGCGCACCTGCCAGGCCCACTGCGCGCAGGCTACTATGACCTCCTCATCAGCATCCACCTCGAAAGTGCCTGCCGCAGCCGCC
GCTCCATGCTCTCTGAATACATCGTGCCCCTCACGCCTGAGACCCGCGCCATCACGCTCTTCCCTCCTGGAAGGAGCACAGAAAATGGTC
ACCCCCGGCATGGCCTGCCGGGAGTTGGAGTCACCACTTCGCTGAGGCCCCCGCATCATTTCTCGCCC-3'

[Top]

RS ID: 34097444 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 38949859

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCAGGAGGATTTAATCTCTGGCCCCACAGCTCAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGG
GAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCCAGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGGTATCAT
TGGTTCTGTGGGACCTGTGACGTCTGACCCATCTCTGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCT
CCTGGCCCCTGAAGACGTGATCAGCTGCTGCCT A/G GACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCCTGTGCAGG
GTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTCTTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCAC
GGCCAGTCCTCAGACCTAGGACTGACCTGAGACAGCTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATC
AAGACTGACTGGTGTCCAGAACCCTTACTTGAAGATCCCAGGGACCTCCACGTGACTCCAGACTCTTT-3'

[Top]

RS ID: 34004552 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38939025

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 3 Q [Gln] / H [His]
missense NM_001042723 Link_out NP_001036188 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTTTGAGGAACACTGGAAGAGGGTTCGGGGCTTGAGGAGGTTTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGC
CTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGCTTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGG
TTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCCATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCA
CAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCA C/G CCACTCCGAGTCCGGCATGTCACTACCGGGCAGTACCTAGCGCTCACCGAGG
ACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCAAGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTG
GCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGA
GGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTGGAGG-3'

[Top]

RS ID: 28933397 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38991294

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 R [Arg] / C [Cys]
missense NM_001042723 Link_out NP_001036188 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCG
CGAGCACTTTGGTGAGGAACCGCCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCT
CGGACGCTGTGCACCAGAGATGCATCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTC C/T GCTCCCTTGTGC
CCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGATGGGGCTCTGGTGCAGCCAAAGATGTCAG
CATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGC
TGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGCCACTTT-3'

[Top]

RS ID: 28933396 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38990637

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 R [Arg] / H [His]
missense NM_001042723 Link_out NP_001036188 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGTGGTGCGGCTGCTCATCCGGAAGCCTGAGTGCTTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATC
GAAGAGGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCACTTTGGTGAGGAACCG
CCTGAAGAAAACCGGGTGCACCTGGGACACGCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGAC A/G CTGTGCACCAGA
GATGCATCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCAT
CATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAA
GGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAACCAGGACTTCTTG-3'

[Top]

RS ID: 16972636 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38964109

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGGTGCACTATGGCCTAATGGTGGCTCCGTGTGTGACCAGGTGTAGGACCAACGGCCTGGCCTAGCCCGCCTGCCCAGCCCAGTA
CTCCATTCCCTGCCACCTCAGGTATCCCGAGTGGACGGCACTGTGGACACGCCCCCCTGCCTGCGCCTGACCCACCGCACCTGGGGCTCC
CAGAACAGCCTGGTGGAGATGCT C/T TTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCAGCACTTCCGCTGCACTGCAGGGGCCAC
CCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGACCCTGACTACGAAAACCTGCGCCGCTC
AGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAA-3'

[Top]

RS ID: 12981200 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 39056007

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 A [Ala] / P [Pro]
missense NM_001042723 Link_out NP_001036188 Link_out 1 A [Ala] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTCCAAGCGCCAGTTCATCTTCGACGTGGTGAACGAGGGCGGCGAGGCTGAGAAGATGGAGCTCTTCGTGAGTTTCTGCGAGGACA
CCATCTTCGAGATGCAGATCGCCGCGCAGATCTCGGAGCCCGAGGGCGAGCCGGAGACCGACGAGGACGAgggcgcgggcgcggcggagg
cgggcgcggAAGGCGCGGAGGAGGGCGCGGCGGGGCTCGAGGGCAcggcggccacggcggcggcgggggcgacggcgCGGGTTGTGGCGG
CCGCAGGCCGGGCCCTGCGAGGCCTCAGCTACCGCAGCCTgcggcggcgcgtgcggcggctgcggcggcttacggcccgcgaggcggcca
ccgcagtggcggcgctgctctgggcagcagtgacgcgcgctggg C/G ccgctggcgcgggggcggcggcggGCGCGCTGGGCCTGCTC
TGGGGCTCGCTGTTCGGCGGCGGCCTGGTGGAGGGCGCCAAGAAGGTGACGGTGACCGAGCTCCTGGCAGGCATGCCCGACCCCACCAGC
GACGAGGTGCACGGCGAGCAGCCGGCCGGGCCGGGCGGAGACGCAGACGGCGAGGGTGCCAGCGAGGGCGCTGGAGACGCCGCGGAGGGC
GCT-3'

[Top]

RS ID: 12973632 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38990593

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 H [His] / H [His]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCCATCCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCC
TCCTCAATAGGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGCAGCTTTGGTGAGGAACCGCCTGAA
GAAAACCGGGTGCACCTGGGACA C/T GCCATCATGTCCTTCTATGCCGCCTTGATCGACCTGCTCGGACGCTGTGCACCAGAGATGCA
TGTGAGACCCTGAGCCAGGGCAGGATGGGAAGGGAGGGCAGGCACAGCCGCTTTGAACGCCTCATGCAGGCACTCGGTGACACGGAGTGA
GCTCCCATATGTGGGTGGTCCTGGACTAGCAATGTTGGGGACACAACAGTGACCAAGACAGCCCCAGGGCCTGGTCTCACAGAGCTCCCA
GTCCAATGGGGGAGACGGACAGTGACACCCAGAGTGGTCAGGGCTGGGATGGGGGAGCACAGGAAGAGGGGTCGGGGCTGGGATTGCAGG
GCACACGGAGAGGACTCAggatggggatggggaacacagggagaggggtcaggatggggatggggtcacagggataggggtcggggccag
gatgaggggtcgcagggagaggggtcaggatgaggttggggggaacaaggagagaggtcgggactggggtgggggGGC-3'

[Top]

RS ID: 11882640 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38964358

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCGCCTGACCCACCGCACCTGGGGCTCCCAGAACAGCCTGGTGGAGATGCTTTTCCTGCGGCTGAGCCTCCCAGTCCAGTTCCACCA
GCACTTCCGCTGCACTGCAGGGGCCACCCCGCTGGCACCTCCTGGCCTGCAGCCCCCCGCCGAGGACGAGGCCCGGGCGGCGGAACCCGA
CCCTGACTACGAAAACCTGCGCCGCTCAGCTGGGGGCTGGAGCGAGGCAGAGAACGGCAAAGAAGGGACTGCGAAGGAGGGCGCCCCCGG
GGGCACCCCGCAGGCGGGGGGAGAGGCGCAGCC C/T GCCAGGGCGGAGAATGAGAAGGATGCCACCACCGAGAAGAACAAGAAGAGAG
GGTGAGTCGAGGGGGGCCCAGAGTGGGGATTGGGGGCTGCCTTGGGACCCCCAAGTAGGCAACCACAGTAACCTGAGAAACCCCCATTGT
ACCCCAAAGTAGACCCATATATGCTAAGTGGAGTAAGAATACCGAGAGATTCTATCATGTCTCCAATGAACCCCATTATTTTCCTGGGAT
GCCCTAATGTCCCCAAGAATATATAATTGGGTACCCTAGTATCTATATGGAGAACTCTATTATCCTTG-3'

[Top]

RS ID: 11083462 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38959680

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAAGGGATGAGACACAGAGATTAGTGGGGAGAAAAATTCCTGTGATCATGGATGCAAATGTGAGGAAAGATGGAGACACTGTGGGG
TGACCCCTCTTCCATACCACCTGCCCTGAACCTGACACTTCGAATGTCTGTCTTCATATATCTCTCCCTCCCTGCTTCCTTATCTCTCCA
TTTCTCTGTGTGTCTCCCCACACCATGTCTTCTCTGGCTGTCCTCACAGGGCCAGCGCTGGCACTTGGGCAGTGAACCATTTGGGCGCCC
CTGGCAGCCGGGCGATGTCGTTGGCTGTATGAT C/T GACCTCACAGAGAACACCATTATCTTCACCCTCAATGGCGAGGTCCTCATGT
CTGACTCAGGCTCCGAAACAGCCTTCCGGGAGATTGAGATTGGGGACGGTGAGGGCTGAGACCCCTTCACATGCCCTTTCTTGTTTTCCT
CTGTCTCTCCCAACCCTGCACTGCCCTTCTGCCTCCAACTCTCCCATCCCTACCTCCTCCCCTCGGCTCCCTCTGCCCTGCCCACCTGCC
CTCACCCCTGCCCATCCATCCCCTCCCACCAGGCTTCCTGCCCGTCTGCAGCTTGGGACCTGGCCAGG-3'

[Top]

RS ID: 10406027 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38939408

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAG
CTGGATGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCC
TCAGGACTGTGGCTCACCTATGC C/T GCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGtgtaatcccagc
tactcaggaggctgaggtgggagaatcgcttgagtccaggaggtcaaggctgcagtgagctggtgatcatgccactgtactccagcctgg
gtgacagagtgagaTGGGGTGCAGGAGGGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTgagagaaagatagag
actgggagagaaactgagactgagagaaacagcaaaaaagacaaagggatatatctacatggagagagagagagagcagaaatctgtaga
cagacagggaaaggcagagataaagaggcatggaaacagagaaatagagaaagatagagacagagaaacagagaCACGgccgggcgtggt
ggctcatgcctgtaatcctagcactttgggaggcccaggcggttggatcacctgaggtcaggagtttgagaccagcct-3'

[Top]

RS ID: 10405232 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map

Details:

Chromosome Reference Position
19 39057577

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGctttgggcaaagggcttcacctcgatgagcctcagtttcccctctgtaaaacg
ggaatcataatCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAGAAAGGAGATGAGAGGAGCAG
GCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGAGTGGAGGAGGAGCTCCC A/
G CCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCCGGAGAAAGCCGAGTGAGTGGCCTTGGGGCTGAGGGGCCTAGCCCCTATCA
CTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTCGGCATCACCCAGCCCAGACT
CAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTccaacctgggcaacataaaaaaaaaattaaaattagccaagc
atggtggtgtgtggggaggctgaggtgggaggatcacttgacccctggaggtggaggctgcagtgagccctgatcgcagcattgccctcc
agcctgggtgacagagcaagaccctgtgtcgaaaaagaaaaaaaaaTATGGAGAGATAGAAAAATGAAAACTCCCATCTAACTGCCAGGC
CTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTG-3'

[Top]

RS ID: 8101510 Link_out

Alleles: A/C

Validation:

  • By 2 hit 2 allele

Details:

Chromosome Reference Position
19 38939345

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTGCACTCTGCAGTCCCTCAGGGGG
GCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGATGTGGCCCCCAAGCGGGATGTG
GAGGGCATGGGCCCCCCTGAGAT A/C AAGTACGGGGAGTCACTGTGCTTCGTGCAGCATGTGGCCTCAGGACTGTGGCTCACCTATGC
TGCTCCAGACCCCAAGGCCCTGCGGCTCGGCGTGCTCAAGAAGAAGGTGGGtgtaatcccagctactcaggaggctgaggtgggagaatc
gcttgagtccaggaggtcaaggctgcagtgagctggtgatcatgccactgtactccagcctgggtgacagagtgagaTGGGGTGCAGGAG
GGTACTGAGGGGTGGTGCTTGAGACCTTGGGAGTTTGAGGATGAGACTgagagaaagatagagactgggagagaaactgagactgagaga
aacagcaaaaaagacaaagggatatatctacatggagagagagagagagcagaaatctgtagacagacagggaaaggcagagataaagag
gcatggaaacagagaaatagagaaagatagagacagagaaacagagaCACggccgggcgtggtggctcatgcctgtaatcctagcacttt
gggaggcccaggcggttggatcacctgaggtcaggagtttgagaccagcctggccaacatggtgaaaccctgtctctactaaaaatacaa
aaattagccaggcgtggtggcagctgcctgtaatcccagctactcaggaggctgaggcaggagaattgcttgaacctgggaagtggaggt
tgggagtgagccaatatcgtgccattgcactccagcctggctgacaagagtgaaactccgtctcagaaaaacaaaaacaaaacaaaacaa
aaaCAAAAACAGAGAGAGTGAGAAAA-3'

[Top]

RS ID: 4802584 Link_out

Alleles: C/G

Validation:

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

Details:

Chromosome Reference Position
19 39025366

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 Q [Gln] / E [Glu]
missense NM_001042723 Link_out NP_001036188 Link_out 1 Q [Gln] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAAATGTAACTTTTCATCATCCAAGTTCACAGATGGCCTGGAGGCCCATGGGCCCAGGTTAAGACTGCTGCATGCCCAGCTCTGAT
TTATGTAGATCTTGCCTAATGCCTAGCCCCGTGCTAGGTACAGGAGATACATCGAGGGTGTGAGCCCCAGGGGATGGAGGGAGCTCATGG
TTGAAGGAGTGAGTTGTGGATGTGGCTGGAACAGGGAGGGCAGAAGTGAGAATGTGAGGGGGAAAGGCTGGGCTGGAAAGCCTGGACTTG
CCTTCATGTGTCTGCCTCCCTTCCCAGGAGAAA C/G AGATGGAGAAGCAGAGGCTCTTGTACCAGCAAGCACGGCTGCACACCCGGGG
GGCGGCCGAGATGGTGCTGCAGATGATCAGTGCCTGCAAAGGTGCCCCTCACATGTGCACTGGACTCTTCCGAGTGCACTCATCCTAACC
TCACTCCTCCTGGCTCGCCCATTCCCTGTGGACCCATTTGCCGCCCCTCAATGCCTGTGGTTTGCACGCACACCCCAGCCCTTGCAGCTT
CCCCTTGTATACCTGCCTTGCAATTTCTCACTCATCCTTCAATCACGATCACCCCTGCATGCACACCT-3'

[Top]

RS ID: 4802472 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38948732

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 T [Thr] / M [Met]
missense NM_001042723 Link_out NP_001036188 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTGTTTCTGTCTTGATTCTTCCTCCATGtctttctccctgtctctctcccatctctctctctctgtctTTGGATGTCTGTCTCTCT
CTGGCTTCCCACCACTTGGCTCTCCTCTCTGCCTCTCCGTCATCCCCCTCTCCTGTCCCATCTCTCCTGCAGCATCCGCCCCAACATCTT
TGTGGGCCGAGCGGAAGGCACCA C/T GCAGTACAGCAAATGGTACTTTGAGGTGATGGTGGACGAGGTGACTCCATTTCTGACAGCTC
AGGCCACCCACTTGCGGGTGGGCTGGGCCCTCACCGAGGGCTACACCCCCTACCCTGGGGCCGGCGAGGGCTGGGGCGGCAACGGGGTCG
GCGATGACCTCTATTCCTACGGCTTTGATGGACTGCATCTCTGGACAG-3'

[Top]

RS ID: 3745847 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
19 38949904

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCGGCCCCCAGGAGGATTTAATCTCTGGCCCCACAGCT
CAGAATCCTAACTTCAGGGGAACCCTGACCTCTGCCCTTCATTTCAGAGCTACGGGAGCATCCAAGGGAGCACTTTCCATTAGGGTTTCC
AGGATGCAATCTCCACAGGAGCCTCCAATATCTGTCCCTTTTCTCTTGTTATCATTGGTTCTGTGGGACCTGTGACGTCTGACCCATCTC
TGGTGACTGATGCAGGACACGTGGCACGCCCAGTGACTTCCCCAGGGCAGCACCTCCTGGCCCCTGAAGACGTGATCAGCTGCTGCCTGG
ACCTCAGCGTGCCGTCCATCTCCTTCCGCATCAACGGCTGCCC C/T GTGCAGGGTGTCTTTGAGTCCTTCAACCTGGACGGGCTCTTC
TTCCCTGTTGTCAGCTTCTCGGCTGGTGTCAAGTGAGAACTTGCCCCCACCCCACGGCCAGTCCTCAGACCTAGGACTGACCTGAGACAG
CTTCCCCAGTCACTCCATGGTCCCCCAGGAGGCCAGGACACTGCAGCCTACCATCAAGACTGACTGGTGTCCAGAACCCTTACTTGAAGA
TCCCAGGGACCTCCACGTGACTCCAGACTCTTTCCAATGACCTCAGATTCTCCCTAACCCCACGTCCTTCCAGTAACCTCTGAGATAATG
GTCTCAGACTCTCCTAGTGGTCTCTCAACAACCCAAGGTTCTTCCGGTGACCTCCCAATGACCTCAGACTTTCCCAGTGACTCCAGAA-3
'

[Top]

RS ID: 3745846 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38942499

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTGTCGCTGACCCGCTGCCAGCAGGAGGAGTCCCAGGCCGCCCGCATGATCCACAGCAC C/T AATGGCCTATACAACCAGTTCA
TCAAGTGAGCAACCTGCCCTCCCTGCTGGGGTGACTCC-3'

[Top]

RS ID: 2960340 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38995438

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGTTGAGGCTTCAATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAATATGGGGATGATTTG
AGCATACAGTTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGTTCAGGGAGGAGGGCTGATGATTGCAGTG
TGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCCGGTTTTCCCAGAAATACGACCCGGAGCT
GTACCGCATGGCCATGCCTTGTCTGTGCGCCAT C/T GCCGGGGCTCTGCCCCCCGACTATGTGGATGCCTCATACTCATCTAAGGCAG
AGAAAAAGGCCACAGTGGATGCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAGTGAGGCCTGGGGGCTGGGAGACAGAGAG
GAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAGTGTGATCATCCCGGAGAAGCTGGACTCC
TTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCT-3'

[Top]

RS ID: 2960319 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 39057616

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGCCCTGGGGACAAGCAGAGCTGCACTTGGAGTCAGCCCGACCCTGCGCAGTGCTTTGGGCAAAGGGCTTCACCTCGATGAGCCTC
AGTTTCCCCTCTGTAAAACGGGAATCATAATCTGCCTCTTTCTGGTGGAGGGAAGTGTAAAACTTAGATTACCCAGGGGAAATAAGAGAG
AAAGGAGATGAGAGGAGCAGGCAGGCAGCCTGAGAAGCGCTTAGGGTGAGGACTCAGCCCTGATGCTTGCCCTGTCCCTAGGTGGATGGA
GTGGAGGAGGAGCTCCCGCCAGAGCCAGAGCCCGAGCCGGAACCAGAGCTGGAGCC A/G GAGAAAGCCGAGTGAGTGGCCTTGGGGCT
GAGGGGCCTAGCCCCTATCACTGCCTCCCTCCTAGAGTAGGAGCCTCCAGAGGTCAGGCCCCAAGGCTGTCCTGGCCACCCTGTGTCCTC
GGCATCACCCAGCCCAGACTCAGGCACGGAGGAGGGGCTCTGAGTAAAAGAATCAAGAAATAAATGCTCCAACCTGGGCAACATAAAAAA
AAAATTAAAATTAGCCAAGCATGGTGGTGTGTGGGGAGGCTGAGGTGGGAGGATCACTTGACCCCTGGAGGTGGAGGCTGCAGTGAGCCC
TGATCGCAGCATTGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTGTCGAAAAAGAAAAAAAAATATGGAGAGATAGAAAAATGAAAA
CTCCCATCTAACTGCCAGGCCTTCGCATGTGCTTTCCCGCTGCCTGGAACACAGGCCCCCATGCCTACTCTGAGTCTTTCTCATCCTTTC
CAATTCTCCAGGACACCTGAC-3'

[Top]

RS ID: 2915960 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 39003004

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 2 A [Ala] / V [Val]
missense NM_001042723 Link_out NP_001036188 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCCCAGGGACAGACGCCCCGGCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGATGCCAGGTAGGGCCATAGGCAGTG
GCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGAGCTGATGTTCCCCCGCTGCCCTT
CTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGCCTCGGAGGACATCGAGAAGATGG
TGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGG C/T GCGCACCCAGGTGAAAGGCGTGGGCCAGAACCTCACCTACACCACTGTGGCA
CTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGTAAGGGCGCCTGACCCAAGGGC
AGGTTGCGGGGAGTCAGTGTGGCCAACACCACCCATCCGGGTGCCTGTGAGAGTCCCTGGGTGTTTGAATGTGTGGATTTCTTGCTGTAA
GCAAAGCATGCAGTCAGTACCTTGGCAGGTGGCAAATGAGTTAATGAGGACGCGAGCTCAGCAGCTCT-3'

[Top]

RS ID: 2915952 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38995975

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAGGGTCCTCCTATCCAAGAAACCCTCAAGAC
CCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAGCCTTCCCTAAGACCCTTAGCTTGTTCTGG
GACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACTGCTGCCTCCCCCTCACCCTGCCTCCCCTCCA
TCTCTAGATCCAGAACAACTGGTCCTATGGAGA A/G AACATAGACGAGGAGCTGAAGACCCACCCCATGCTGAGGCCCTACAAGACCT
TTTCAGAGAAGGTGACCAGGCCTTGGGGCCCAGCATTGAGGGTCAAAATGAAACCCCCAAATTTGAGGATTCGGGGAGGAGTGAGGCAAT
TTCACATGTTTGCATCTAGGTGGATCTGTGGGTTAGGTCTCCCCATTCATGGACTTTGCCTTCTCTCAAACTTGGTAGAGTGGGTAGAGA
CTCCGAGAGAGTGGGTTTGATTCCTTGGCTGTAGTAAGACTTCTCGGAGACTCAAGTGTCTAATGGGA-3'

[Top]

RS ID: 2915951 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38995510

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTGCAAGTTTGGATCTAGGAGGATCTATGGGTTGAGGCTTCGATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGC
TTGGAGAGGGCAATATGGGGATGATTTGAGCATACAATTGGGACTGACATTTGGGTTTCAAGGAGAGGGACCATAATTCAGGTTTGGGGT
TCAGGGAGGAGGGCTGATGATTGCAGTGTGTGAGTTTGAGGTCCTGGGGGTCAGTAAGGCTTATAGCGACCTCCTACCCCTGCTTCACCC
GGTTTTCCCAGAAATACGACCCGGAGCTGTACCGCATGGCCATGCCTTGTCTGTGCGCCATTGCCGGGGCTCTGCCCCCCGACTATGTGG
ATGCCTCATACTCATCTAAGGCAGAGAAAAAGGCCACAGTGGA C/T GCTGAAGGCAACTTTGATCCCCGGCCTGTGGAGACCCTCAAG
TGAGGCCTGGGGGCTGGGAGACAGAGAGGAAGATTTCAGGGGTGGAGGGAACCCCAGCTCCAACATCTGCTGACCCTGTGCCCCCAACAG
TGTGATCATCCCGGAGAAGCTGGACTCCTTCATTAACAAGTTTGCGGAGTACACACACGAGAAGTGGGCCTTCGACAAGGTTGGCCTCAG
GGTCCTCCTATCCAAGAAACCCTCAAGACCCCAGCTTTCCCCCCGACCTGGTTCTTCCCTGAGGCCCCAGATCTCCCTGAGACCCCCCAG
CCTTCCCTAAGACCCTTAGCTTGTTCTGGGACCCCCCCAGGATTCTCTGTCCTCGGCTCCTCCAGGGTCGCCCCGTGTGTCCCCAACT-3
'

[Top]

RS ID: 2304151 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 39008003

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAATTCAATGGTGTCTGATGTATTGCGGGGGAGGCCAGGGCACTGAGGTCTGGGGGTGATGGCTTGACATTCCCTGCCCCCGTCCCT
GTACCCCAGTCCT A/G GGGCTCCCCAACAGTGTGGAGGAGATGTGTCCCGACATCCCGGTGCTGGAGCGGCTCATGGCAGACATTGGG
GGGCTGGCCGAGTCAGGTGCCCGCTACA-3'

[Top]

RS ID: 2302297 Link_out

Alleles: A/C

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 39076754

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGGGCCTCCACTCTGATGTCTCTTGCCACTCACAGACCAAGTGCTTCATCTGTGGAAT A/C GGCAGTGACTACTTTGATACGA
CACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCAC-3'

[Top]

RS ID: 2302296 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 39058515

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGCCCCCCAAGAAGCAAGCACCTCCCTCACCCCCTCCAAAGAAGGAGGAAGCTGGAGG C/T GAATTCTGGGGAGAACTGGAGG
TGCAGAGGGTGAAGTTCCTGGTAAGGATCCAGCCAGGT-3'

[Top]

RS ID: 2288888 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
19 38946182

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCCATGGTCCTGAATTGCATAGACCGCCTAAATGTCTACACCACTGCTGCCCACTTTGCTGAGTTTGCAGGGGAGGAGGCAGCCG
AGTCCTGGAAAGAGATTGTGAATCTTCTCTATGAACTCCTAGGTAGGGGTCCCAGTCCTGACTCCCCTGAGAACACCCCAGATCCCCAGT
CCTATTGGATCTGACACCTCTTCCCCCCTCAGCTTCTCTAATCCGTGGCAATCGTAGCAACTGTGCCCTCTTCTCCACAAACTTGGACTG
GCTGGTCAGCAAGCTGGATCGGCTGGAGGCCTC A/G TCTGGTAGGAGAACCCGGGGGAGTGGGACAGACGCTTGTGGGAGGGGATGGG
CATGGCCGCTTCACCTCTCATTCTGGGCACCCTGGCAGGCATCCTGGAGGTCCTGTACTGTGTCCTCATTGAGAGTCCAGAGGTTCTGAA
CATCATCCAGGAGAATCACATCAAGTCCATCATCTCCCTCCTGGACAAGCATGGGAGGAACCACAAGGTCGGCCCCTCACCCCTGACCTC
TCATCCCCTGAACTCTGAATGCTGGCCTCTCCCCAGGGCTCCAGAACTCTGCTCACTCCCTCACTTCC-3'

[Top]

RS ID: 2229149 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
19 39077210

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAGACCAAGTGCTTCATCTGTGGAATCGGCAGTGACTACTTTGATACGACACCGCATGGCTTCGAGACTCACACGCTGGAGGAGCA
CAACCTGGCCAATTACATGTTTTTCCTGATGTATTTGATAAACAAGGATGAGACAGAACACAC A/G GGTCAGGAGTCTTATGTCTGGA
AGATGTACCAAGAGAGATGTTGGGATTTCTTCCCAGCTGGTGATTGTTTCCGTAAGCAGTATGAGGACCAGCTTAGCTGACACACCCCCA
GCTGGCCCTCCACCCCCACCTCAAGTGCCTTATTCTCA-3'

[Top]

RS ID: 2229147 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38990345

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGGGAGGTCTCT
GATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGGCTGCTCATC
CGGAAGCCTGAGTGCTTCGGACC C/T GCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCATCCGCATCTC
CGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATAGGGCAACCC
GCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCACCTTCCCTGC-3'

[Top]

RS ID: 2229146 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38996990

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 S [Ser] / S [Ser]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGTAGGTGGGGCAAGAGGGGTGCAGAAACCTGAGATCTGGGAAAGGAGAGGGCAGGGGTCTGAAGAACTGCAAAGGGCAGAGGAG
AGAAGGATGGGGTGGTTTAGAGACAGGGCCTTAAGGAAAGGACACGGGGTCTTGAGCCAGGGGAGGGTGGAGGGGGTAGAATGGACTAGT
GGGGCCTGGGGAGGGGCTGGCCTGGGCTTCCTGCTAGCCCATCAGCCCACCTCCCATCTTCCCCTTGTCCTCTCAGACCTATGATCCTCG
AGAAGGCTACAACCCTCAGCCCCCCGACCTTAG C/T GCTGTTACCCTGTCCCGGGAGCTGCAGGTGAGAGCCCTGATCCTTTTGGGGG
GACATAGGGTGTCTTTGGGGGGGCTGGCATCCTTTGAATCTAGCCCTTGACTCTGCATCCACTCCCAGGCCATGGCAGAACAACTGGCAG
AAAATTACCACAACACGTGGGGACGGAAGAAGAAGCAGGAGCTGGAAGCCAAAGGTGAGGGCGCCCATGCCGCCCCCACGCGACCCCCGT
GGATTCACCGTGTGGTTTTGCTGATTGCCTTCATGCCCCTGAAACTCGGTTTCTCCATCTGTAGATGG-3'

[Top]

RS ID: 2229145 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 39010023

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCAGGGATTTGTGCCAGGCTGGGGTCACAGGATAGGGACTGGGTCTTAGGTTCAGGTTAGGGGCTATGGCTGGGATCAGTGTTCAG
GGACTATATCCAAGGTTAGGGTCAGGCTGGGGTCAAATGGCAGCTGCTAGGTTGGAGATGCTGTTTGGGAGTCGGGCTGGGAACGGAGTT
TGGGGCCTGTGTCAGAGGCCGGAGGTGGCATCAGAGCCCATCGCACCCCTGCAGTGTTCGCACAGCCCATTGTGAGCCGTGCACGGCCGG
AGCTCCTGCAGTCCCACTTCATCCCAACTATCGGGCGGCTGCGCAAGAGGGCAGGGAAGGTGGTGTCCGAGGAGGAGCAGCTGCGCCTGG
AGGCCAAGGCGGAGGCCCAGGAGGGCGAGCTGCTGGTGCGGGA C/T GAGTTCTCTGTGCTCTGCCGGGACCTCTACGCCCTGTATCCG
CTGCTCATCCGCTACGTGGACAACAACAGGTCAGCGGGGCCCCGCTGTCCCCATGCCCTCCGCCCCGACCTCCCACGTCCTCCAGCCCCA
TCTGATCTCCGCCTCCTGACTGGCTAGAAACTTCTTCCAATGCTCTGGCCCCACCAACCTTCTGACTCTTCCTCCTGGTTTCTTCTGGCT
TTGAGCACATTGGTCCAACGACAGCCAGCCCACTTGTTTGTTTCTTTTTGTTTTTGGTTTTTGGGTTTTTTTTTGTTTGTTTTTGTTTTT
GGAGACAGAGCCTCGCTTTATTGCCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGTAACCTCCACCTCCCGGGTTCAAGTGA-3
'

[Top]

RS ID: 2229144 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
19 38994910

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACACAACCAGCTCTAGTTTAATGCCCATTTTAACTCTAAATTAAGAATGCTAAATTTGCATACTAAGCTGTCTAGGACCACTCCTC
AATAAACATACCATTTCTTCCCTTATTAGCATATCATTTGCATAACCCACACCTCCTTCATAATTTAAAAGCACTGGCATGCCTGTGTCT
CTCTGGGCCTTCGTCTGCCTGCCATTCGCTGGTGCCCCCCTCATTTGTGTGTCCCCCTCTTGTTCCCACCCAGCTCCTCACCAACCACTA
TGAGCGCTGTTGGAAGTACTACTGCCTACCCAC A/G GGCTGGGCCAACTTCGGGGTCACCTCAGAGGAGGAGCTGCACCTCACACGGA
AACTCTTCTGGGGCATCTTTGACTCTCTGGCCCATAAGGTCTGGGCAGCAGGGAGCCCCAAAATGGCCTATGTGGAGGGTTTGGGGCCCA
AAATTGGGGGTCCAGAGTGAAATCCCTCAATTTTGGGGGGTTCAAGGAGGAGAAGGTTCTGCAAGTTTGGATCTAGGAGGATCTATGGGT
TGAGGCTTCAATTTGGAGGTTATGAAAGAGGGGGTGGACCTCTAGTTTGGGAGCTTGGAGAGGGCAAT-3'

[Top]

RS ID: 2229142 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38993547

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 H [His] / H [His]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGC
TTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGCAGGGGGAGGAGCAGGGGCAGGGGCAGCAG
AGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCA C/T CTGTTGCGCCGC
CTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCG
CACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGT
CCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACT-3'

[Top]

RS ID: 2229140 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38939067

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGGACCAAGACTATAGTGTCCAGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATTGC
TTGAGCCCTGGAGTTCAAGATCAGCTTGGGCAACATAGCAAGACCTGGTTTCTGTAAAAAAAAGAAAAAGAAGAAAAGACTGTAATGTCC
ATGGGAGAACTGGGGGGTCCTCTGACTCCCCTTGGCTCTCACCCTCCACAGCTGGAGTGGGAGCCACCTGCGCTGGGGCCAGCCACTCCG
AGTCCGGCATGTCACTACCGGGCAGTACCTAGC A/G CTCACCGAGGACCAGGGCCTGGTGGTGGTTGACGCCAGCAAGGCTCACACCA
AGGCTACCTCCTTCTGCTTCCGCATCTCCAAGGTCAGTGGGGTTTGTGGCGCCCTCCCTCACCTGAAGCCCCCAGTCCCAGCCCAGCCTG
CACTCTGCAGTCCCTCAGGGGGGCTCCCCTGCTAAACACACAGGCAGAGGAGGCTGACCTGTGTCCCCTGCCCCTGTAGGAGAAGCTGGA
TGTGGCCCCCAAGCGGGATGTGGAGGGCATGGGCCCCCCTGAGATCAAGTACGGGGAGTCACTGTGCT-3'

[Top]

RS ID: 2229139 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By submitter
  • By cluster

Details:

Chromosome Reference Position
19 38935280

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAATTTTCTGATTTCTGACCTCCCA
TTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGGTATCCACCCTTGATTTCTGGC
CTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCACCTGTCGACCGCCAGTGGGGA
GCTCCAGGTTGACGCTTCCTTCATGCAGACACT A/G TGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGAC
CTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGCCTTGGAACCTCAGACCTCAAA
CCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCTCAGAACCCCCCCAAACCCCGA
ACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCAAGGCTCCTAAACTCAGATTCA-3'

[Top]

RS ID: 2228074 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38956902

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGACRACACTGGTGGACCGTCTGGCAGAAAATGGGCACAA
YGTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGC A/G CGCCGAAACCCTCGGCTGGTGC
CCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACA
TCGAGCCTCCTGACCAGGAGCCCAGTCAGGTGGAGAAC-3'

[Top]

RS ID: 2228072 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38991516

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAACTCTAGACAGCCTCCTGAGAAAGAGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCA
CCAGCGCCTGATGAGTGCCCCTCTCCCTCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCT
CCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGA
ACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGG
TGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGC A/G TCCATGGTGCTCTTCCTGGACCGTGTGTATGGCATCGAGAAC
CAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAG
CCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGA
CATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAG
ACCTCCAGTTATAAGAAATCATCATTTGAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGG-3
'

[Top]

RS ID: 2228071 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38990336

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 C [Cys] / C [Cys]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 C [Cys] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGGTGTTACCTCTGGAGGTGTTGGGTCCTGGAGCTGGATGGGACCTGTGTTACCCCTGGAGGTGTTGGGTCCTGGGGCTGCATGGG
GAGGTCTCTGATGGTGGCTCATGAGACCCCCTTTCCCCATGCGGGTGGCCAGGCGAGAGCGTGGAGGAGAACGCCAATGTGGTGGTGCGG
CTGCTCATCCGGAAGCCTGAGTG C/T TTCGGACCCGCCCTGCGGGGTGAGGGTGGCTCAGGGCTGCTGGCTGCCATCGAAGAGGCCAT
CCGCATCTCCGAGGACCCTGCGAGGGATGGCCCAGGCATCCGCAGGGACCGGCGGCGCGAGCAGTGAGTCTCCCGGCCCCCTCCTCAATA
GGGCAACCCGCCCTCCCTGGCCCCTGGCTGCCTCCCCAACCCACCCAC-3'

[Top]

RS ID: 2228070 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38956839

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAAAGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCA
AAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAACTTATTCTAAAATTTCATAGAACTGCAACATTATATC
AAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATATAGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTC
CCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGGCTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGG
CGCAGACGACACTGGTGGACCGTCTGGCAGAAAATGGGCACAA C/T GTGTGGGCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGC
GCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTGCTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGC
CTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCTGACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTG
GCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCTGACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTT
TTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCGCGATCTCTGCTCACTGCAAGCTCCACCTCCTGGGTT-3
'

[Top]

RS ID: 2228069 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
19 38956803

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAAAAAAAAAACAAAGAGAGAGAAAAACCTCAAAGTTAGTGGTGAGAGGTCTGAGAGAGTTCCGGGGTTAGAGATAGGGGTCCCAA
AGTCAAGACAAAGGGGGCTAGAGGTCATTGATGTCAAAGCCCTTGCTAGGGTCCCAGGATCCTAGGGTCAGAAGCCAGGGATCTCAAAAC
TTATTCTAAAATTTCATAGAACTGCAACATTATATCAAAGGTCAGAAACGCCGAAGCTGGGACAAGGGTCAGCAGTCAGGGATCCCATAT
AGTGCAGAGCCCGGAAGTGGAGGTGAGGGCCTTGTCCCATGGAGCCCTACCATGCCCGCAGGTATATGATGAGCAATGGGTACAAGCCGG
CTCCGCTGGACCTGAGCCACGTGCGGCTGACGCCGGCGCAGAC A/G ACACTGGTGGACCGTCTGGCAGAAAATGGGCACAACGTGTGG
GCCCGAGACCGCGTGGGCCAGGGCTGGAGCTACAGCGCAGTGCAGGACATCCCAGCGCGCCGAAACCCTCGGCTGGTGCCCTACCGCCTG
CTGGATGAAGCCACCAAGCGCAGCAACCGGGACAGCCTCTGCCAGGCCGTGCGCACCCTCCTGGGCTACGGCTACAACATCGAGCCTCCT
GACCAGGAGCCCAGTGAGTGCTCACCCCTGGCCCTGGCCCTGACTCCTACCCCAACTCTGACCCCAGCCCCGATCCCTGATCTCTGACCT
GACTCAGCCCCCAAATGGGCTATATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCCCCAGGCTGGAGTGCAATGGCG-3
'

[Top]

RS ID: 2228068 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By submitter
  • By cluster

Details:

Chromosome Reference Position
19 38981284

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 K [Lys] / K [Lys]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCCGCGAGTTCCGCTCCCCACCCCAGGAACAGGTCATCTGACCCCTGACGCTGGCCACTTTTACTGTCTAAACCCCAACCTCAACA
TCTCCTGACTCTGATCACTGAGGACCCTCAACCTCTAAACCCGTGCTTGACCCCTGACCCTAGTGATACATTTATCTCCTACTCTCTGAA
TCAACCTGACCTCTGAGTCACCTCAGACTGATGCTGACTCTTTTCAAACCTCTGGCCCTAGTCTCCCAAATAGTCTTCATTAACTCACAC
TTCGACTCATGACCTTAGACATGGACTAACAATTGCATCTTCTATCTCTGATCTCAGAGTTCCTGCTTTGGGATCTCAGACCCTCATTCT
AATCTTTGACCTTCCCCTAGATCAATATGCTATTGCAATTCAA A/G GATGGTACAGATGAGGAAGACTGTCCTCTCCCTGAAGAGATT
CGACAGGATTTGCTTGACTTTCATCAAGACCTGCTGGCACACTGTGGTAAGGAGTGGGGATCAGAGAGTCCTCCCCATGCTAACTTTCTC
TCGAGACCTCTCCAGAAGTTTCCCTAAGATTTCCTGACAACCCTCTACAGTATCGGTGCTATGTAACTATTGGTTGAATGAATGAATGAG
TGAGTGAATGAATGTGTTAGTGAACAGTTAGACAATGCGTGTTTATATGGGTATTTGGGTGGATGGCTATAAGCCAGATAAATGAATGGG
TATGTGAATTGATGGATAGAAGAAGTGGGTAAAAAATGGCTGGCTGGATAGATGGAAGGATGAAGAGAAGGATGGATGGATGGTTGAG-3
'

[Top]

RS ID: 2071089 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
19 39002725

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCCTTAATTTGAACAACCTTTGTTGTTTTCTTCCCCTGGACCTGGAGACATGGACCAGGTATCCGGGGGGTAGGGCAGTGACTGA
GATGCCCTGGGCCTGCCCTCAATGGAGCTCCCAGGCCAGTGGGAGAGACAGACCTATCTCCAGACAAGGACAGCCCAGTGGGGTCAGGGC
TGGGCAGGAGGAAGGCCAGGAGAGTGGTTGGGCTGGGGAGGAGGGACATTTGGAGGCGCTGTAGGAGTCTGGGGGGGTGGGGGTGCAGTA
GCATTCCAACTTAGCCCGCAGGTAGCCTCAGGAAGAGAGCGGTTGGGGTGGATGTAGAGGGAGGCACTGTCCTCTGTCCTCTTAGCCATG
GCATCCCCCCGGCCCATCTTCCTCTCCCAGGGACAGACGCCCC A/G GCTGTGGTCAACTGTCTTCACATCCTGGCCCGCTCCCTGGAT
GCCAGGTAGGGCCATAGGCAGTGGCGCCCACTCCCACCATCATCGGGCCCCCACCCCAACCCCTGGTCTCCTAGACTCTCCGATTCCAGA
GCTGATGTTCCCCCGCTGCCCTTCTAGGACAGTGATGAAGTCAGGCCCTGAGATCGTGAAGGCTGGCCTCCGCTCCTTCTTCGAGAGTGC
CTCGGAGGACATCGAGAAGATGGTGGAGAACCTGCGGCTGGGCAAGGTGTCGCAGGCGCGCACCCAGGTGAAAGGCGTGGGCCAGAACCT
CACCTACACCACTGTGGCACTGCTGCCGGTCCTCACCACCCTCTTCCAGCACATCGCCCAGCACCAGTTCGGAGATGACGTCATCCGT-3
'

[Top]

RS ID: 2071088 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
19 38991543

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGCCTGCTCTACCCTCCTGTGTGGTAAGGGAGGGAGCAGAGCAGTCACTGAGTGGGGCACCAGCGCCTGATGAGTGCCCCTCTCCC
TCCCTCTACTCCCCAGCTAATCCAAGCCGGCAAGGGTGAGGCCCTGCGGATCCGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCT
TGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGTGCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAG
GGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGCAGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCG
TGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGT A/G TATGGCATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGAC
GTGGGGTTCCTGCCCGACATGAGGGCAGCCGCCTCGCTGGACACGGTGAGCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGA
GGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTTCTTGGGATTGTGGACATATCATAATCCCCAATACCATCATC
AAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAGTAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTT
GAGGTCAGGCGTGGTGACTCGCGCCTGTAATCCCAGCACTTTGGGGAGCCGAGGCGAGCGGATCACAAGGTCAGGAGTTCGAGACCAG-3
'

[Top]

RS ID: 1801086 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
19 38937350

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000540 Link_out NP_000531 Link_out 1 G [Gly] / R [Arg]
missense NM_001042723 Link_out NP_001036188 Link_out 1 G [Gly] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGCGCAGACTTGTCTACTATGAG A/G GGGGAGCTGTGTGCACTCATGCCCG-3'

[Top]

RS ID: 1469698 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38993556

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTCTCGGGGTCGTTCGCTCACCAAGGCGCAGCGTGACGTCATCGAGGACTGCCTCATGTCGCTCTGCAGGTGGAGCGGGGCAGGC
TTCAgggtggggcaggggcaggggcaggggcaggggcaggggcaggggcaggggcaggggcagggggaggagcaggggcaggggCAGCAG
AGCGGGCCTGGACGGGGGATTCTACATCTTGTGCATTGTCCCGCAGGTACATCCGCCCGTCGATGCTGCAGCACCTGTTGCG C/T CGC
CTGGTGTTCGACGTGCCCATCCTCAACGAGTTCGCCAAGATGCCACTCAAGGTGAGGGCAAGCGCTCTTTAGCATCTCATTTCCAGGCCG
CACCCACTGGTTTGCTCTTCCCTCCTACTGCGGGGCTCATTTGTGTCGGCACTGCCCAGCCCAATAAACCTGCACTAGTTAGGGCAGCGT
CCCCGTAGAAATCTCTTAGCATCCTTATTTGCATACTAGGATTCCCAGAACATTCACTTTGCTTCATTGATGCCTCTAGCGTTCCCTAAT
TAGCATTTAATTTGCTTAACAGTGAGCCAGCCCCCGCTTCAATTAGCATATATTTGCATGGAGCACACCACTTTCCCTAATTAGCATGTT
TATTTGCATG-3'

[Top]

RS ID: 1468571 Link_out

Alleles: A/C

Validation:

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

Details:

Chromosome Reference Position
19 39068641

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAAAAACAAAGTGggctgggcacggtggctcacgcctgtaatcccagcactttgggaggccaaggagggcagatcacttgaggtta
ggagttcaagaccagcctgaccaacacagagaaaccccgtccctactaaaaatacaaaattagccgggcatggtggtgcatgcctgtaat
cccagctactcaggtggctgaggcaggagaatcgcttgaacccgggaggcacaggttgcagtgagcagagatggcgccactgccctccag
cctgggtgacagagggagactgtctcaaaaaaaaaaaTGCACCTCCCATTTCTCACTCAGAGTTTGGAGTGTCCCCAGAACCCCCTTGCA
GGCCACGACACACACCCACACTCCAGCTGTGTCTACACAGCCTGATGCTCTCTTGTGCAGGTCCTGGACAAACATGGGGACATCTACGGG
CGGGAGCGGATTGCTGAGCTACTGGGCATGGACCTGGCCACACTAGAGATCAC A/C GCCCACAATGAGCGCAAGCCCAACCCGCCGCC
AGGGCTGCTGACCTGGTGAGCCCAGGACACCCCTGCACAGGCCTGGGGCATGCAGGGGAGGTGACTGGAGTCTGACACTCAAGCATCTCT
CCCCACCCCCGCCCCCACAGGCTCATGTCCATCGATGTCAAGTACCAGATCTGGAAGTTCGGGGTCATCTTCACAGAC-3'

[Top]

RS ID: 1465698 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
19 38991600

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 P [Pro] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGCGCCATCCTCCGCTCCCTTGTGCCCTTGGAGGACCTTGTGGGCATCATCAGCCTCCCACTGCAGATTCCCACCCTGGGCAAAGGT
GCAGAGGGGATGGAACTTGGCGAAGGAGTGATGCTGGGGAGGGAGCGGCTGGGTCCGCAGGGCATCCCCGAACCCACCCTCCCTGCCTGC
AGATGGGGCTCTGGTGCAGCCAAAGATGTCAGCATCCTTCGTGCCGGACCACAAGGCGTCCATGGTGCTCTTCCTGGACCGTGTGTATGG
CATCGAGAACCAGGACTTCTTGCTGCACGTGCTGGACGTGGGGTTCCTGCC C/T GACATGAGGGCAGCCGCCTCGCTGGACACGGTGA
GCAACCCTGCCCAGCCTGGCCACCCTCCCCACTTCCACAGAGGGACAGGAGATGGGTCACGGTAGAGCAGCAGCAGCTGCTTTTGTTTTT
CTTGGGATTGTGGACATATCATAATCCCCAATACCATCATCAAGATAGAAAATGAAAACGAAGAAACACTGAATTCCGATGAAGGGTGAG
TAGGAATCTCCAAGACCTCCAGTTATAAGAAATCATCATTTGAggtcaggcgtggtgactcgcgcctgtaatcccagcactttggggagc
cgaggcgagcggatcacaaggtcaggagttcgagaccagcctgaccaacatggtgaaaccgcatctctactaaaagtacaaaaattagcc
agacgtggtggcgcacacttgtaatccca-3'

[Top]

RS ID: 892054 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
19 38935259

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000540 Link_out NP_000531 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001042723 Link_out NP_001036188 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTCTCACCATGGGTTTGCCTGGCTGATCTCCCACCCCCAAGGTCCTGACTCCCAATTTCCCATTTCCTGACCCCTGACATCCAAT
TTTCTGATTTCTGACCTCCCATTGCCCGACTTGATCATTTCCTGATCTGTGATCTCTGATGACTCTGTCTCCCATCTGCCGGTTTCCGGG
TATCCACCCTTGATTTCTGGCCTCTGACGCTGGGACTCTCGCCCACCCCTGCAATCGTCTCTGACTGCCGCATCCTGGTGGCCCCCAGCA
CCTGTCGACCGCCAGTGGGGAGCTCCAGGTTGA C/T GCTTCCTTCATGCAGACACTATGGAACATGAACCCCATCTGCTCCCGCTGCG
AAGAGGGTGAGGGCCCCAGACCTCCCCCTAAATGGAGATCCCCCCAAAACAGACCCTTAATGTTGCCCTTCAGGCATACCCAAATGGAGC
CTTGGAACCTCAGACCTCAAACCTAGATCTCCAAATTATGGCTCTCACACTTAGATCTCCAGCTGACCCCAAATCCAGACCCCCAGAGCT
CAGAACCCCCCCAAACCCCGAACTAAATATCAGGCTCCCAAACTTAGACCCCAAAGTATTAGCCCCCA-3'