SNPJam Report for RB1

Showing coding SNPs for RB1 (Gene ID: 5925)

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: 117865557 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48947553

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000321 Link_out NP_000312 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATATTTTCTTAAAGATTTAAGTAAAATGTAATTTCTTATAAACCACAGTCTTATTTGAGGGAATGTAGAGACAAGTGGGAGGCAGTG
TATTTGAAGATACATTTAACTTGGGAGATGGAAAACATTTCATTTTTTCTTTTTTTCTCCCTTCATTGCTTAACACATTTTCCTATTTTT
ATCCCCTCTAGGACTGTTATGAA C/T ACTATCCAACAATTAATGATGATTTTAAATTCAGCAAGTGATCAACCTTCAGAAAATCTGAT
TTCCTATTTTAACGTAAGCCATATATGAAACATTATTTATTGTAATATCTTGGCAAAGAAACTTGAAATTAAAAGTTAAAGTACTGAGTT
CTTTTTAAAATACTAATCTCCTATCTAACATGTAGTTATCCATAATCT-3'

[Top]

RS ID: 115596308 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985973

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 2 P [Pro] / L [Leu]
missense NM_001162498 Link_out NP_001155970 Link_out 2 P [Pro] / L [Leu]
missense NM_005767 Link_out NP_005758 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATTAACAAATGTTTGTGTTCTCACAAGAGAATATAAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAATATGATCAAAT
GTACAAAAATCATTTTTAAAACCTTAGTTTTGTTTATTTTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGTTTTTAGCACCATACTAG
AACAAGTTACATTTAAAATTAGA A/G GAATAAAAAATCCCACTATTTCGATGAAAATTACAATCCTTGAGAGATATGTTTTCCATGTG
GCTTCTGGAAAATTTTCAAAGCAGGCTTCTGAGGCATTGTTACCCTGAGAGTGGGTAGACTGAACAAAAACGGCGGGTGCACTTCCTCCG
ATCACAGTTAACCACACGCCAGTGCAAACAATCTTTGCATTTCTTTTG-3'

[Top]

RS ID: 114407777 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49033835

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTGTAATATGCCTCATAATAAACCAGTAAACATGTTTCTCTGGGGGAAAGAAAAGAGTGGTAGAAAAGAGGTTTCTGTTAAAATGC
TACTTAACAGCATTATAATTAGAGCGATTTCATGATTTGAAAAAAATCTACTTGTAATTCAAAATGAACAGTAAAAATGACTAATTTTTC
TTATTCCCACAGTGTATCGGCTA A/G CCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACAT
ATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACT
TCACCTTCTCTCCTCCCTACTTACTTGTTAACTGATTCTTTCTTTCTT-3'

[Top]

RS ID: 114372872 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985745

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 2 M [Met] / T [Thr]
missense NM_001162498 Link_out NP_001155970 Link_out 2 M [Met] / T [Thr]
missense NM_005767 Link_out NP_005758 Link_out 2 M [Met] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAATATCTTACTTTTTAAGGTCTGTAGGTTATGCTGAATAAAATTCTCTGCACCATGAACTTCAGAGAATCTGAAGTCACTTCTCC
TGACAGACCAGTTTTTCATTTTTATTGAATTCTGAATTGTGTCCGATGTAAAGTAGTAAACTATAGGGTCAAAACAACAGTTGGAAACAG
CAATACAGAGAGTGATTGGGTAC A/G TTGTCCTTACTGCTGCCACTACTGAGCAATTAACAAATGTTTGTGTTCTCACAAGAGAATAT
AAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAATATGATCAAATGTACAAAAATCATTTTTAAAACCTTAGTTTTGTTTATT
TTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGTTTTTAGCACCATA-3'

[Top]

RS ID: 113697253 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48986118

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 1 S [Ser] / G [Gly]
missense NM_001162498 Link_out NP_001155970 Link_out 1 S [Ser] / G [Gly]
missense NM_005767 Link_out NP_005758 Link_out 1 S [Ser] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGTTTGGTTAAAGTTTTTAGCACCATACTAGAACAAGTTACATTTAAAATTAGAGGAATAAAAAATCCCACTATTTCGATGAAAAT
TACAATCCTTGAGAGATATGTTTTCCATGTGGCTTCTGGAAAATTTTCAAAGCAGGCTTCTGAGGCATTGTTACCCTGAGAGTGGGTAGA
CTGAACAAAAACGGCGGGTGCAC C/T TCCTCCGATCACAGTTAACCACACGCCAGTGCAAACAATCTTTGCATTTCTTTTGGTTCTTA
GAGTCTTTGACTTAAATGGGTAGACAATTGCCAGAAATCGATCTACACTAATACAGGTTAAGAACAGAATGCTTCCGTACATGTTGGTAT
AAAACAGCATCACAGAAATCTTACAAAGTAAATCTCCAAATGGCCAAT-3'

[Top]

RS ID: 113432974 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49033924

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000321 Link_out NP_000312 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTAACAGCATTATAATTAGAGCGATTTCATGATTTGAAAAAAATCTACTTGTAATTCAAAATGAACAGTAAAAATGACTAATTTTT
CTTATTCCCACAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATC
ATCTGGACCCTTTTCCAGCACAC C/T CTGCAGAATGAGTATGAACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCAC
TTCACCTTCTCTCCTCCCTACTTACTTGTTAACTGATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT
CTTTCTTTCTTTTTCTTTCTTTCTTTCTCTCTTTCTTTCTTTTTTTTG-3'

[Top]

RS ID: 112592020 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985922

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 2 K [Lys] / T [Thr]
missense NM_001162498 Link_out NP_001155970 Link_out 2 K [Lys] / T [Thr]
missense NM_005767 Link_out NP_005758 Link_out 2 K [Lys] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCCGATGTAAAGTAGTAAACTATAGGGTCAAAACAACAGTTGGAAACAGCAATACAGAGAGTGATTGGGTACATTGTCCTTACTGC
TGCCACTACTGAGCAATTAACAAATGTTTGTGTTCTCACAAGAGAATATAAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAA
TATGATCAAATGTACAAAAATCATTTTTAAAACCTTAGTTTTGTTTATTTTGCTTCTACTTAATGTAACAGGT G/T TGGTTAAAGTTT
TTAGCACCATACTAGAACAAGTTACATTTAAAATTAGAGGAATAAAAAATCCCACTATTTCGATGAAAATTACAATCCTTGAGAGATATG
TTTTCCATGTGGCTTCTGGAAAATTTTCAAAGCAGGCTTCTGAGGCATTGTTACCCTGAGAGTGGGTAGACTGAACAAAAACGGCGGGTG
CACTTCCTCCGATCACAGTTAACCACACGCCAGTGCAAACAATCTTTGCATTTCTTTT-3'

[Top]

RS ID: 79585013 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48939088

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 2 T [Thr] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATAAAAAATAAAAAAGTTATACACAGATTTTTTACTGCATGGGGGATTGACACCTCTAACTTACCCTGCATTGTTCAAGAGTCAAG
AGATTAGATTTTGTTTTAAATTTTAATGATCATGTTGTAACTTCATCTTTTTCAGGTGAAAAATGTTTATTTCAAAAATTTTATACCTTT
TATGAATTCTCTTGGACTTGTAA C/T ATCTAATGGACTTCCAGAGGTAATCTGAAAGGAAATTTAATAAAATATTAATGTTTTGAGAC
TGTGGAGGGAGGATAATTGTCTAACTTTCTTAGATCAATTTACTGTGTATCACATTTTTTTTTTGCCCAAGAAGAATCTAGCCAAGTAGA
ATTGTGGTGAAACTAACTTTTGTATAGTAACAAAAAGCTTTTGAGTAT-3'

[Top]

RS ID: 79200171 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
13 49033880

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 1 H [His] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAAAGAAAAGAGTGGTAGAAAAGAGGTTTCTGTTAAAATGCTACTTAACAGCATTATAATTAGAGCGATTTCATGATTTGAAAAAA
ATCTACTTGTAATTCAAAATGAACAGTAAAAATGACTAATTTTTCTTATTCCCACAGTGTATCGGCTAGCCTATCTCCGGCTAAATACAC
TTTGTGAACGCCTTCTGTCTGAG C/G ACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAA
CTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTTCTCTCCTCCCTACTTACTTGTTAACTGATTCTTTCTTT
CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT-3'

[Top]

RS ID: 76296232 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48954315

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAAATTCAATGCTGACACAAATAAGGTTTCAATTAAACAACTTCTTTTTTTTTTTTTAAATTATCTGTTTCAGGAAGAAGAACGAT
TATCCATTCAAAATTTTAGGTAAATTTTTTACTTTTAGTAAAAAATTTTTTTCTTTTTATAGAAGTAAGTATTTTATAATCTTTTTTTTT
TTCCTTTAGCAAACTTCTGAATG A/G CAACATTTTTCATATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCA
GTAAGTTAAATTTTCATAAATAAACACTTTTGTTCAATTTAAAGTTAAAATGTGGTGTGTTTCTTTGGTCGGGGGAGAGGGATAGTGTGA
GGTTAAGGAGAAGGAATGCTTATTTTAGATCACTATATACTGAAGAAT-3'

[Top]

RS ID: 75240779 Link_out

Alleles: G/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
13 48986113

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001162497 Link_out NP_001155969 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001162498 Link_out NP_001155970 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_005767 Link_out NP_005758 Link_out 3 A [Ala] / A [Ala]
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTAACAGGTTTGGTTAAAGTTTTTAGCACCATACTAGAACAAGTTACATTTAAAATTAGAGGAATAAAAAATCCCACTATTTCGATG
AAAATTACAATCCTTGAGAGATATGTTTTCCATGTGGCTTCTGGAAAATTTTCAAAGCAGGCTTCTGAGGCATTGTTACCCTGAGAGTGG
GTAGACTGAACAAAAACGGCGGG G/T GCACTTCCTCCGATCACAGTTAACCACACGCCAGTGCAAACAATCTTTGCATTTCTTTTGGT
TCTTAGAGTCTTTGACTTAAATGGGTAGACAATTGCCAGAAATCGATCTACACTAATACAGGTTAAGAACAGAATGCTTCCGTACATGTT
GGTATAAAACAGCATCACAGAAATCTTACAAAGTAAATCTCCAAATGG-3'

[Top]

RS ID: 75015057 Link_out

Alleles: A/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
13 48986450

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 2 V [Val] / A [Ala]
missense NM_001162498 Link_out NP_001155970 Link_out 2 V [Val] / A [Ala]
missense NM_005767 Link_out NP_005758 Link_out 2 V [Val] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCTTCCGTACATGTTGGTATAAAACAGCATCACAGAAATCTTACAAAGTAAATCTCCAAATGGCCAATTCCGTGTTGTGAAGTAAA
AAATCCTGAAGGGTAAAGTAAAAACAAAAAGCAAGTCTGACATTGCCAAGTTAATCATGTAAGTTGTAGTTTCATTTCGGACTTTGAGGA
CGCAGATGAAAATGTATATGGCA A/G CACAATTGGATATTAACCCAAGCACAAACACCATGCTGAACATGCACCCATACAAAGTGTAC
TTAAAGGAGTCATTATAGAAGCAGTGGGAGCTGTTAACGCTTACCATCGTAAAGGCACGTCCAATTTTCAGTTTGGAAGCACTTTCATCA
GCTGCAGTCTCCTTTGGGATTCAGATTATAACCTCTATAACCTCCAAT-3'

[Top]

RS ID: 72070444 Link_out

Alleles: (LARGEDELETION)/-

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49033914

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 FQHTLQNEYELMRDRHLDQ / QHTLQNEYELMRDRHLDQ

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGAGCTTCTGGATATTTGCCCAACTGGAGGTTCCTGGAGAATAGCATGCCTGGGGAGGGCAAGGAAAATCCATGCCCCTTCTCAC
ATGCCTTGCCCTCTGCATTTCTTCATCTGTATCCCTTGTAATATGCCTCATAATAAACCAGTAAACATGTTTCTCTGGGGGAAAGAAAAG
AGTGGTAGAAAAGAGGTTTCTGTTAAAATGCTACTTAACAGCATTATAATTAGAGCGATTTCATGATTTGAAAAAAATCTACTTGTAATT
CAAAATGAACAGTAAAAATGACTAATTTTTCTTATTCCCACAGTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTT
CTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTT (LARGEDELETION)/- ACCACCACACCTTGTTAATTTTTGTATT
TTAGTAGAGACAGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGTCTACCTAAGGCCTCCCAAAGTGT
TGGGATTACAGGCATGAGCCACCGCACCCAGCCTTGTTAAGTGATTTCTAAAGAAAATATTAGATTCAAATGAGAAACTAGATCAATTTA
TTAGACTTAATATATGTTCACTTTTTGGCTACCATTTACATTTTTGTTGTAATTCTTACAAATTAGAGCTTTAACACTCAAGAGTATATT
TTAGTAACTGCTTATTTAATGACACAAAAGATCTTACCTGTAAAAAAAATAGCTGAAGAACCTTCTTATCACTGGCTTTTTCTATGTAGT
AGTGAGCTAGA-3'

[Top]

RS ID: 67908709 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985932

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001162497 Link_out NP_001155969 Link_out 3 K [Lys] / K [Lys]
frameshift NM_001162498 Link_out NP_001155970 Link_out 3 K [Lys] / K [Lys]
frameshift NM_005767 Link_out NP_005758 Link_out 3 K [Lys] / K [Lys]
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGATTCATTGTCAAATATCTTACTTTTTAAGGTCTGTAGGTTATGCTGAATAAAATTCTCTGCACCATGAACTTCAGAGAATCTGA
AGTCACTTCTCCTGACAGACCAGTTTTTCATTTTTATTGAATTCTGAATTGTGTCCGATGTAAAGTAGTAAACTATAGGGTCAAAACAAC
AGTTGGAAACAGCAATACAGAGAGTGATTGGGTACATTGTCCTTACTGCTGCCACTACTGAGCAATTAACAAATGTTTGTGTTCTCACAA
GAGAATATAAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAATATGATCAAATGTACAAAAATCATTTTTAAAACCTTAGTTT
TGTTTATTTTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGT -/T TTTTAGCACCATACTAGAACAAGTTACATTTAAAATTAGAGG
AATAAAAAATCCCACTATTTCGATGAAAATTACAATCCTTGAGAGATATGTTTTCCATGTGGCTTCTGGAAAATTTTCAAAGCAGGCTTC
TGAGGCATTGTTACCCTGAGAGTGGGTAGACTGAACAAAAACGGCGGGTGCACTTCCTCCGATCACAGTTAACCACACGCCAGTGCAAAC
AATCTTTGCATTTCTTTTGGTTCTTAGAGTCTTTGACTTAAATGGGTAGACAATTGCCAGAAATCGATCTACACTAATACAGGTTAAGAA
CAGAATGCTTCCGTACATGTTGGTATAAAACAGCATCACAGAAATCTTACAAAGTAAATCTCCAAATGGCCAATTCCGTGTTGTGAAG-3
'

[Top]

RS ID: 67850338 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48947580

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 3 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTTGAAAATGTTTAATATTTGGTTGTAATAATGTTTTCTTAAAACAATACCATTTTGTTGCCAGTTTATATAGTTTCTCCTAAAAA
TAATGCCACTATTTTATTGATATGTAGTTTTATTAGTAAATAAGTATATCTGTTCTATAACTATAAACTTATTGATTGTGAATACATATT
TTCTTAAAGATTTAAGTAAAATGTAATTTCTTATAAACCACAGTCTTATTTGAGGGAATGTAGAGACAAGTGGGAGGCAGTGTATTTGAA
GATACATTTAACTTGGGAGATGGAAAACATTTCATTTTTTCTTTTTTTCTCCCTTCATTGCTTAACACATTTTCCTATTTTTATCCCCTC
TAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTA -/T AATTCAGCAAGTGATCAACCTTCAGAAAATCTGATTTCCTAT
TTTAACGTAAGCCATATATGAAACATTATTTATTGTAATATCTTGGCAAAGAAACTTGAAATTAAAAGTTAAAGTACTGAGTTCTTTTTA
AAATACTAATCTCCTATCTAACATGTAGTTATCCATAATCTTTTCTTGCTTTTTTAATCTTACAAATTATATATTATTAGTAGTATTGTT
TTATTTATACAGTGTTATTTAAAACATTTTTATGTTTACCTATTTGCCTTGCTCACCATTCTTCCTTGCAACTTATGCCTCACTTCTGAG
ATAATTTTTTTCTTCTTCAGATATATCCTTTGATAATTACTTTAGTGGTATTAATTTGGGATGAACTTTTTGAGGTTTTATTTTGTTT-3
'

[Top]

RS ID: 67412362 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49039384

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 Y [Tyr] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTTTCCTTTATAATATGTGCTTCTTACCAGTCAAAAAGTATTATAAACTATTAGAAAAGAAAATCTAAAGGTAGAAATTTTAAAA
TTCATTTAACAAGTAAATTTTACTTTTTTTTTTTTTTTTTTTTTTTTACTGTTCTTCCTCAGACATTCAAACGTGTTTTGATCAAAGAAG
AGGAGTATGATTCTATTATAGTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGGTAG
GTCAAAAGTATCCTTTGATTGGAAAAATCTAATGTAATGGGTCCACCAAAACATTAAATAAATAATCTACTTTTTTGTTTTTGCTCTAGC
CCCCTACCTTGTCACCAATACCTCACATTCCTCGAAGCCCTTA -/T CAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACAT
CTATATTTCACCCCTGAAGAGTCCATATAAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGGTGTGTGTTTTC
TCTTTAGGGAAGTAGTAAAGAATGAGAGGGGGATTATTTTGATCCAAGAATAAAAAATATAAAGCATTCTTCATTTCAAATAAGCTAGAC
TCTTGAAACTCTATTTGCTTATTTAAGTAACATAATAAGAATATGGGGGCGGGGTGAAGAAAATCTATTTACGACTTAAGCAACGCAAGA
TGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAGGTACCG-3
'

[Top]

RS ID: 67246835 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48939044

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAAAATATATGTGAATTCAATCTTTATGTTATTGGTTGGCTTCCAGTCAACAGTAGGCTGTTAGTTAAATTTTGGGTACTCAAAAG
TAATCGATAGGTCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATGGCTTGAGCCCAAGCATTTGAAGCTGTAATGCATGTGAT
TGCACCTGTGAATAGCCACTACACTTCAGCCTAGGCAATATAGAGAGACCCCTTCTCTAAGAAAATAATAAAAAATAAAAAAGTTATACA
CAGATTTTTTACTGCATGGGGGATTGACACCTCTAACTTACCCTGCATTGTTCAAGAGTCAAGAGATTAGATTTTGTTTTAAATTTTAAT
GATCATGTTGTAACTTCATCTTTTTCAGGTGAAAAATGTTTAT -/T TTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTA
ACATCTAATGGACTTCCAGAGGTAATCTGAAAGGAAATTTAATAAAATATTAATGTTTTGAGACTGTGGAGGGAGGATAATTGTCTAACT
TTCTTAGATCAATTTACTGTGTATCACATTTTTTTTTTGCCCAAGAAGAATCTAGCCAAGTAGAATTGTGGTGAAACTAACTTTTGTATA
GTAACAAAAAGCTTTTGAGTATATAATCAAATGTATTAGCATCATTTTGTGATTTATACTAGAAATCAATCTTTATTGAATTTTTTCCAA
AATCAAAGTATAGACTTTTAAACTTCTAAATACCATTAAATAGCTAAATTTTAATAGCTAAATATAAACCATTAAATTTGCTTTGGTA-3
'

[Top]

RS ID: 67152593 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49039403

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 3 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGCTTCTTACCAGTCAAAAAGTATTATAAACTATTAGAAAAGAAAATCTAAAGGTAGAAATTTTAAAATTCATTTAACAAGTAAAT
TTTACTTTTTTTTTTTTTTTTTTTTTTTTACTGTTCTTCCTCAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTA
TAGTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGGTAGGTCAAAAGTATCCTTTGA
TTGGAAAAATCTAATGTAATGGGTCCACCAAAACATTAAATAAATAATCTACTTTTTTGTTTTTGCTCTAGCCCCCTACCTTGTCACCAA
TACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACC -/C TTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAG
AGTCCATATAAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGGTGTGTGTTTTCTCTTTAGGGAAGTAGTAAA
GAATGAGAGGGGGATTATTTTGATCCAAGAATAAAAAATATAAAGCATTCTTCATTTCAAATAAGCTAGACTCTTGAAACTCTATTTGCT
TATTTAAGTAACATAATAAGAATATGGGGGCGGGGTGAAGAAAATCTATTTACGACTTAAGCAACGCAAGATGGCCGAATAGGAACAGCT
CCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGA-3'

[Top]

RS ID: 67045046 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48916834

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAAATGAAACTATTTTGAGGAATTGACTGACCCCTAAAGTTTCCACAATAACTTATTTAATTTTTTATCTTTCTAATACTTTTTT
GCCTTATAATATAAAATTTGAATGTTTGTTATTAGTGTGAAATGAAATCCTTTCAAATATATGCCATCAGAAGGATGTGTTACAAATATA
CAGTATTACAAACATTTATTTTGTATGCTGAATAAGAAAAAATCAGTTATAATACAGTTTTAACATAGTATCCAGTGTGTGAATTATTTA
ATGAAATATTTGATCTTTATTTTTTGTTCCCAGGGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCA
GTTGACCTAGATGAGATGTCGTTCACTTTTACTGAGCTACAGA -/A AAAACATAGAAATCAGGTAAAGTTTCTTGTATAAATATAAGC
CTCTGCCATAAAAGGAAACGAATTCTGGATTTTCCTCTCAATAGACTTTTGTGAATTAGTGAGAAATGCTAAAATAAAGTAAAACAAAAA
GAACTTGGACCAAATAGTGAACTGCCATTCTCTCATGGAGCCGTTATGAAAGTGTATTTATGCTGTATTTCTTTAAGAGGTAGCAGTTTG
TGTCCTGGAAAAATTTTCATTGTGTCTCTCACTATTCATGTGTAAGCTTTCTTAATTGTGGCTGTTAATAAAGTGAACAGAAAAGCAAGG
ATTTGTAAATAGGCTTGTTTTATATTAAAACCTTTATATAAGTAGTTTGAGTTTATCTTAAAGGTATTTAGGTAAGATTTATTAAAGC-3
'

[Top]

RS ID: 66961080 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49050884

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGAAAGCTGTTCTGACTTGCCTACTTCTGAAAAGTAGTCCTGTATGGTGGGTTCTGAAAATGAGGAACCAGGACTTGCAGAGTA
GGCAGTTGCTGGAGGAAGAATGTGAGCTGCATGGGAAAAGACAGGAGGATTTACAAAGAGTGGGTGTTTAATTGGGGATGGAATTAGGTA
GTTATTCTGATTTTTAGATTTTTCATATCTTTTATTTGGTCCAATGAAGCAGAAAATTTAAATGAAGTTATTACCTTTGCCTGATTTTTG
ACACACCTCAAACTATAACTTGAGGTTGCTAACTATGAAACACTGGCATTTAATGATTTAAAGTAAAGAATTCTGTAATTTGTAGACTTC
TGAGAAGTTCCAGAAAATAAATCAGATGGTATGTAACAGCGAC -/C CGTGTGCTCAAAAGAAGTGCTGAAGGAAGCAACCCTCCTAAA
CCACTGAAAAAACTACGCTTTGATATTGAAGGATCAGATGAAGCAGATGGAAGGTAGGAACCAGTTTTGAATGTTTTCCAGTAGCCGAGA
TGGTCATCTGGGGAATCCAGAGTCTCAGCACTGCTCCTGGCTTATACCAATTTCTTTCATGCCAAGTTTATTTGGAAGTTGTGAGAATGG
CTCAAAATAATAGATATGAGTGTAGTGCAAAGTTAAAAACATCTTACAAATTGCATACCAACATTCAGTGAAGATATCTAATAAACCCTG
ATCTTTTTTACAAAGCTATTGATAAAATTTTGTTATTCTTAACATTAAATTTAAAAATGTTTACTCTTGAAAAATATTAACCACTGTA-3
'

[Top]

RS ID: 66936947 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48919245

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTTACAAATATAGAAAGGGAAACACTAAAATGAAGCATATGGTTTTATATTGGAATTGGATGAATGGATGTGAACTCATGTTTTTT
AAAACACATAGACAGATACAGAATAAATATACGCATATCTCTTCTTGACCCTTCGTTTTCTTATATTCTCAATGATGAATAGATATAAGC
ATAGGTATATAGATAATAGAGGTGTAAGTTGAAGGCTAATTATTTTTGCAAAAAGTAATTCCTTCCAAAGGATATAGTAGTGATTTGATG
TAGAGCTGATAATCTTTTGAATTGAAATATCTATGATTTGAAAACGAAATAACACAAATTTTTAAGGTTACTGATTTACTTTTTTCTATT
CTTTCCTTTGTAGTGTCCATAAATTCTTTAACTTACTAAAAGA -/A AATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACT
GTTGAAGAAGTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGTAAAGTAAACATTTTATTAGGTTTACACTCTGATTTTTTAT
GTCATTGTTCACAATTAGATTCTGGGAATTATTTAACACATTTAGTAAAGTTAGTAAGTATTAATTCTTAGACTTGTCCCTTTTAATGTT
AGCTCATTAATTCTTAGCTTTCTTATTTATCCAGTAATATGCATTCTGAATGCTTCCTGGAAAATTAACCGTTTTATTATCCTTTCATGT
CTTCCATTTGTTTTCAAAAACTTTAAGCTTATCTCCCATTTTAGCCTTCTTTGCCAGAAAACTTCTAGTTCTGAATAGAATGGTGACA-3
'

[Top]

RS ID: 66805009 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48951157

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGTATGAGGCTCTTTCTGATGGATGGAAAGCTTAACAAATTTGCTCTTCTCTAGCCTAGTGGCAGAAAATTTAGATAATAGGGTT
TTTTAGTTGTACTGTAGTATTTTTTGCTCATTAACATCCAGTGAAATGATATTGTCTGCTTATGTTCAGTAGTTGTGGTTACCTAGTTAT
TATGGAAGTGTTTCCACATTTTTATGAACAATTTAAAAAGTCATATATTATGGAGCAGAAAATATTAATTCTGATTACACAGTATCCTCG
ACATTGATTTCTGTTTTTACCTCCTAAAGAACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCT
TTAAAGAGAAATTTGCTAAAGCTGTGGGACAGGGTTGTGTCGA -/A AATTGGATCACAGGTAACTTGAATTCATTGTAATTCGTGGTA
CTATAGAGTAATAATATTAAAAGCAGCATCTTTCCAGTTCGTATAAATACTCTAACAGTATTTGTCTAGTAGTATAAAATACTGTCAGAT
ACTATATCCCTGCTGCCTGTGTATGCTGCTATTTATGGGTAACTTTATGGAAAACTACCTCCCACCCCATTATAAAAACTATGTAATAAA
GGAACACATAGCCATTGTAGAAATTTTGGAAAATACAACTAAGAAAAAAATTGAAATCTTTGATATTAAATTTTTGATTTTGCTTTGACT
TCTACATGTATGACTGTTCATGTATGCATATCCTAATGTGAATGGGACTATACATGCCATTTGTCAGTGATATTATTGAGTGATATTA-3
'

[Top]

RS ID: 66644190 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49037969

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGATTCTACTTTCAACTTTTCTGGGAAACATTTAAGGGACAAGAGCCAAAGTTAGGGTAATTTACAAACCAGGTGATCAGTCCTGAA
TAATTGAGCCTTGGTGATTTGCATTTTGTTCTTTAAACACACTTTGGGTTAAACACTTCATGTAGACTTTCAAACTGAGCTCAGTATGGA
AAGAAATAACTCTGTAGATTAAACCTTTCTTTTTTGAGGCTAAAAGAAAGAAAATGGTATTTTTTAAGAACAAAACCATGTAATAAAATT
CTGACTACTTTTACATCAATTTATTTACTAGATTATGATGTGTTCCATGTATGGCATATGCAAAGTGAAGAATATAGACCTTAAATTCAA
AATCATTGTAACAGCATACAAGGATCTTCCTCATGCTGTTCAG -/G AGGTAGGTAATTTTCCATAGTAAGTTTTTTTGATAAATCCAT
ATCCATAACATAACATAGGTAATTCATTTGATCTCATTTATTCATTAATGAGATCATATATTCTGTCTGACCTTATTATGTAAATTCACA
AATAAAAACTTTTATATTATTTATTTGTAACTTAAATAGAATTGGAAAGATAAGGGTAATTATGAAATTACCCATATTCATAGTTTTTTA
TAAAGTTAATAAATAATATTTTATCCCTGTAATAAGCAGGTATTTGTAATAAACTTGACATGAGTCATAGAACATTAGATATTCTTTGAA
GTTATTTTTATTACTTTATAGGAAAAGCCAGTATAAATGCAGCCTTGCAAATCAATAATACAAATGTTCAGTATAAACACATTTTGT-3'

[Top]

RS ID: 66624868 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48919328

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTTAAAACACATAGACAGATACAGAATAAATATACGCATATCTCTTCTTGACCCTTCGTTTTCTTATATTCTCAATGATGAATAG
ATATAAGCATAGGTATATAGATAATAGAGGTGTAAGTTGAAGGCTAATTATTTTTGCAAAAAGTAATTCCTTCCAAAGGATATAGTAGTG
ATTTGATGTAGAGCTGATAATCTTTTGAATTGAAATATCTATGATTTGAAAACGAAATAACACAAATTTTTAAGGTTACTGATTTACTTT
TTTCTATTCTTTCCTTTGTAGTGTCCATAAATTCTTTAACTTACTAAAAGAAATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAG
ACTGTTGAAGAAGTATGATGTATTGTTTGCACTCTTCAGCAAA -/T TGGAAAGGTAAAGTAAACATTTTATTAGGTTTACACTCTGAT
TTTTTATGTCATTGTTCACAATTAGATTCTGGGAATTATTTAACACATTTAGTAAAGTTAGTAAGTATTAATTCTTAGACTTGTCCCTTT
TAATGTTAGCTCATTAATTCTTAGCTTTCTTATTTATCCAGTAATATGCATTCTGAATGCTTCCTGGAAAATTAACCGTTTTATTATCCT
TTCATGTCTTCCATTTGTTTTCAAAAACTTTAAGCTTATCTCCCATTTTAGCCTTCTTTGCCAGAAAACTTCTAGTTCTGAATAGAATGG
TGACATAAATTTAAACTTCTTCCTAATAGTGTTATTTAGTTTGGAACGAGAAAACACTTGCAATGGATGGTGTATGTGACCTATACT-3'

[Top]

RS ID: 66519118 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48939048

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATATATGTGAATTCAATCTTTATGTTATTGGTTGGCTTCCAGTCAACAGTAGGCTGTTAGTTAAATTTTGGGTACTCAAAAGTAAT
CGATAGGTCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATGGCTTGAGCCCAAGCATTTGAAGCTGTAATGCATGTGATTGCA
CCTGTGAATAGCCACTACACTTCAGCCTAGGCAATATAGAGAGACCCCTTCTCTAAGAAAATAATAAAAAATAAAAAAGTTATACACAGA
TTTTTTACTGCATGGGGGATTGACACCTCTAACTTACCCTGCATTGTTCAAGAGTCAAGAGATTAGATTTTGTTTTAAATTTTAATGATC
ATGTTGTAACTTCATCTTTTTCAGGTGAAAAATGTTTATTTCA -/A AAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACAT
CTAATGGACTTCCAGAGGTAATCTGAAAGGAAATTTAATAAAATATTAATGTTTTGAGACTGTGGAGGGAGGATAATTGTCTAACTTTCT
TAGATCAATTTACTGTGTATCACATTTTTTTTTTGCCCAAGAAGAATCTAGCCAAGTAGAATTGTGGTGAAACTAACTTTTGTATAGTAA
CAAAAAGCTTTTGAGTATATAATCAAATGTATTAGCATCATTTTGTGATTTATACTAGAAATCAATCTTTATTGAATTTTTTCCAAAATC
AAAGTATAGACTTTTAAACTTCTAAATACCATTAAATAGCTAAATTTTAATAGCTAAATATAAACCATTAAATTTGCTTTGGTAAGCC-3
'

[Top]

RS ID: 66482475 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49039401

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTGCTTCTTACCAGTCAAAAAGTATTATAAACTATTAGAAAAGAAAATCTAAAGGTAGAAATTTTAAAATTCATTTAACAAGTAA
ATTTTACTTTTTTTTTTTTTTTTTTTTTTTTACTGTTCTTCCTCAGACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTAT
TATAGTATTCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGGTAGGTCAAAAGTATCCTTT
GATTGGAAAAATCTAATGTAATGGGTCCACCAAAACATTAAATAAATAATCTACTTTTTTGTTTTTGCTCTAGCCCCCTACCTTGTCACC
AATACCTCACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCA -/C CCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGA
AGAGTCCATATAAAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGGTGTGTGTTTTCTCTTTAGGGAAGTAGTA
AAGAATGAGAGGGGGATTATTTTGATCCAAGAATAAAAAATATAAAGCATTCTTCATTTCAAATAAGCTAGACTCTTGAAACTCTATTTG
CTTATTTAAGTAACATAATAAGAATATGGGGGCGGGGTGAAGAAAATCTATTTACGACTTAAGCAACGCAAGATGGCCGAATAGGAACAG
CTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGG-3'

[Top]

RS ID: 61741709 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985925

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 2 T [Thr] / S [Ser]
missense NM_001162498 Link_out NP_001155970 Link_out 2 T [Thr] / S [Ser]
missense NM_005767 Link_out NP_005758 Link_out 2 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTAAAACCTTAGTTTTGTTTATTTTGCTTCTACTTAATGTAACAGGTTTG C/G TTAAAGTTTTTAGCACCATACTAGAACAAGTT
ACATTTAAAATTAGAGGA-3'

[Top]

RS ID: 34873197 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48954326

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 1 H [His] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGAGGTTGCAGTGAGCCAAGATTGTGCCATTTCACCCCAGCCTGGCAACAGAGCAAGACACCATCTAAAAAAAAAAAAAAAAAAAA
AAAAAATTCAATGCTGACACAAATAAGGTTTCAATTAAACAACTTCTTTTTTTTTTTTTAAATTATCTGTTTCAGGAAGAAGAACGATTA
TCCATTCAAAATTTTAGGTAAATTTTTTACTTTTAGTAAAAAATTTTTTTCTTTTTATAGAAGTAAGTATTTTATAATCTTTTTTTTTTT
CCTTTAGCAAACTTCTGAATGACAACATTTTTC -/A ATATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCACATATAGCAG
TAAGTTAAATTTTCATAAATAAACACTTTTGTTCAATTTAAAGTTAAAATGTGGTGTGTTTCTTTGGTCGGGGGAGAGGGATAGTGTGAG
GTTAAGGAGAAGGAATGCTTATTTTAGATCACTATATACTGAAGAATGTAATTGGTCATTATAAGCCATTTAAGAGGCTTATTTGAGTTA
TTTGAGGCCATCTTGGGGATAATATTTCACTAGGCTTCTCTTCTGAGTATACTGGTATACTGAATCCA-3'

[Top]

RS ID: 34437965 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48878110

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 P [Pro] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGGCGGGCCCGGGAGCCTCGCGGACGTGACGCCGCGGGCGGAAGTGACGTTTTCCCGCGGTTGGACGCGGCGCTCAGTTGCCGGGC
GGGGGAGGGCGCGTCCGGTTTTTCTCAGGGGACGTTGAAATTATTTTTGTAACGGGAGTCGGGAGAGGACGGGGCGTGCCCCGACGTGCG
CGCGCGTCGTCCTCCCCGGCGCTCCTCCACAGCTCGCTGGCTCCCGCCGCGGAAAGGCGTCATGCCGCCCAAAACCCCCCGAAAAACGGC
CGCCACCGCCGCCGCTGCCGCCGCGGAACCCCC -/G GGCACCGCCGCCGCCGCCCCCTCCTGAGGAGGACCCAGAGCAGGACAGCGGC
CCGGAGGACCTGCCTCTCGTCAGGTGAGCGAGCAGAGCCGCCGTCGCCTCACGCGGGAAGGGCGCCCCGGGTGTGCGTAGGGCGGGCGCC
AAGGCGGCTCGGCGGGGACCCGTCCTCGCCAGGGGCCGGGTCCCGGCGGGAGGAGGCGCCCTCCCTGCCCCCCGCCACGGCGGAGCGTCT
GCAGAATGGTGACAGGATTCTGGGTTCTTGGGCGAGGGGTCTCGGCTTCAACTTGACAGGTGTCGGGC-3'

[Top]

RS ID: 17071686 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985639

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 3 W [Trp] / C [Cys]
missense NM_001162498 Link_out NP_001155970 Link_out 3 W [Trp] / C [Cys]
missense NM_005767 Link_out NP_005758 Link_out 3 W [Trp] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATACACAAATAAAATACATGTTAATGCTTAACACATTGAATACAAATTTTCTTTATACTAAAGACTTTAAAATGTCCATGTGTTA
ATTTCTTTTGGAGGTGGAAAAATAGTTTGTCCAAAAAGACACTTTTCACAGTTGAAGGAACTTGAAAGTTCTGTCCCAGTGAGTCCTAAT
GGTTTTATTTCAGGCAGCAGATTCATTGTCAAATATCTTACTTTTTAAGGTCTGTAGGTTATGCTGAATAAAATTCTCTGCACCATGAAC
TTCAGAGAATCTGAAGTCACTTCTCCTGACAGA A/C CAGTTTTTCATTTTTATTGAATTCTGAATTGTGTCCGATGTAAAGTAGTAAA
CTATAGGGTCAAAACAACAGTTGGAAACAGCAATACAGAGAGTGATTGGGTACATTGTCCTTACTGCTGCCACTACTGAGCAATTAACAA
ATGTTTGTGTTCTCACAAGAGAATATAAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAATATGATCAAATGTACAAAAATCA
TTTTTAAAACCTTAGTTTTGTTTATTTTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGTTTTTAGC-3'

[Top]

RS ID: 5803433 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48954327

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000321 Link_out NP_000312 Link_out 2 H [His] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-tctactaaaagtacaaaaattagctgggcgtggtggtgtagacctgtagtcccagctacttggcaggctgaggcaggagaatccctt
gaaccagggaggtggaggttgcagtgagccaagattgtgccatttcaccccagcctggcaacagagcaagacaccatctaaaaaaaaaaa
aaaaaaaaaaaaaaaTTCAATGCTGACACAAATAAGGTTTCAATTAAACAACTTCTTTTTTTTTTTTTAAATTATCTGTTTCAGGAAGAA
GAACGATTATCCATTCAAAATTTTAGGtaaattttttacttttagtaaaaaatttttttctttttatagaagtaagtattttataatctt
tttttttttCCTTTAGCAAACTTCTGAATGACAACATTTTTCA -/A TATGTCTTTATTGGCGTGCGCTCTTGAGGTTGTAATGGCCAC
ATATAGCAGTAAGTTAAATTTTCATAAATAAACACTTTTGTTCAATTTAAAGTTAAAATGTGGTGTGTTTCTTTGGTCGGGGGAGAGGGA
TAGTGTGAGGTTAAGGAGAAGGAATGCTTATTTTAGATCACTATATACTGAAGAATGTAATTGGTCATTATAAGCCATTTAAGAGGCTTA
TTTGAGTTATTTGAGGCCATCTTGGGGATAATATTTCACTAGGCTTCTCTTCTGAGTATACTGGTATACTGAATCCAAAAAAGGTACTTT
TTGAAATCCCTCCGAAGACCTTTGAGATTGTAGAGTGCCAAAGGAGTATTCAAGAGTGGCCTCTACTGATATGGAAGCACTGCTGTAA-3
'

[Top]

RS ID: 4151553 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48986149

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 3 C [Cys] / W [Trp]
missense NM_001162498 Link_out NP_001155970 Link_out 3 C [Cys] / W [Trp]
missense NM_005767 Link_out NP_005758 Link_out 3 C [Cys] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATTTTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGTTTTTAGCACCATACTAGAACAAGTTACATTTAAAATTAGAGGAATAAA
AAATCCCACTATTTCGATGAAAATTACAATCCTTGAGAGATATGTTTTCCATGTGGCTTCTGGAAAATTTTCAAAGCAGGCTTCTGAGGC
ATTGTTACCCTGAGAGTGGGTAGACTGAACAAAAACGGCGGGTGCACTTCCTCCGATCACAGTTAACCACACGCCAGT C/G CAAACAA
TCTTTGCATTTCTTTTGGTTCTTAGAGTCTTTGACTTAAATGGGTAGACAATTGCCAGAAATCGATCTACACTAATACAGGTTAAGAACA
GAATGCTTCCGTACATGTTGGTATAAAACAGCATCACAGAAATCTTACAAAGTAAATCTCCAAATGGCCAATTCCGTGTTGTGAAGTAAA
AAATCCTGAAGGGTAAAGTAAAAACAAAAAGCAAGTCTGACATTGCCAAGTTAATCATGTAAGTTGTA-3'

[Top]

RS ID: 4151552 Link_out

Alleles: G/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
13 48985759

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001162497 Link_out NP_001155969 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001162498 Link_out NP_001155970 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_005767 Link_out NP_005758 Link_out 3 A [Ala] / A [Ala]
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGAGTCCTAATGGTTTTATTTCAGGCAGCAGATTCATTGTCAAATATCTTACTTTTTAAGGTCTGTAGGTTATGCTGAATAAAATT
CTCTGCACCATGAACTTCAGAGAATCTGAAGTCACTTCTCCTGACAGACCAGTTTTTCATTTTTATTGAATTCTGAATTGTGTCCGATGT
AAAGTAGTAAACTATAGGGTCAAAACAACAGTTGGAAACAGCAATACAGAGAGTGATTGGGTACATTGTCCTTACTGC G/T GCCACTA
CTGAGCAATTAACAAATGTTTGTGTTCTCACAAGAGAATATAAAATAAGATTGATATTGTAAGGAACAAAACAGAAACAGAATATGATCA
AATGTACAAAAATCATTTTTAAAACCTTAGTTTTGTTTATTTTGCTTCTACTTAATGTAACAGGTTTGGTTAAAGTTTTTAGCACCATAC
TAGAACAAGTTACATTTAAAATTAGAGGAATAAAAAATCCCACTATTTCGATGAAAATTACAATCCTT-3'

[Top]

RS ID: 4151539 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48955458

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 2 A [Ala] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACACTCAAAATTGGAAGGCTATTTCCTATGAGTCCGTAGACTCCAAAATAAAAAATTCTGCTCTAAATAAAAATGGTTTAACCTTTC
TACTGTTTTCTTTGTCTGATAATAACTTCCAAAAAAATACCTAGCTCAAGGGTTAATATTTCATAAATAGTTACTTTTTTTTTTCATTTT
TAGGAAGTACATCTCAGAATCTTGATTCTGGAACAGATTTGTCTTTCCCATGGATTCTGAATGTGCTTAATTTAAAAG C/G CTTTGAT
TTTTACAAAGTGATCGAAAGTTTTATCAAAGCAGAAGGCAACTTGACAAGAGAAATGATAAAACATTTAGAACGATGTGAACATCGAATC
ATGGAATCCCTTGCATGGCTCTCAGTAAGTAGCTAAATAATTGAAGAAATTCATTCATGTGCATATGGCTAACAAATTATTGTTAGTGAG
AGGTGTTTCTTAACAAATCTACCTCAAGAACAAATAGGGAATTTAATGAATAATGTTATTTCAGTCTA-3'

[Top]

RS ID: 4151534 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48951144

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 1 Q [Gln] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGATATTGTCTGCTTATGTTCAGTAGTTGTGGTTACCTAGTTATTATGGAAGTGTTTCCACATTTTTATGAACAATTTAAAAAGT
CATATATTATGGAGCAGAAAATATTAATTCTGATTACACAGTATCCTCGACATTGATTTCTGTTTTTACCTCCTAAAGAACTGCACAGTG
AATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCTTTAAAGAGAAATTTGCTAAAGCTGTGGGA A/C AGGGTTG
TGTCGAAATTGGATCACAGGTAACTTGAATTCATTGTAATTCGTGGTACTATAGAGTAATAATATTAAAAGCAGCATCTTTCCAGTTCGT
ATAAATACTCTAACAGTATTTGTCTAGTAGTATAAAATACTGTCAGATACTATATCCCTGCTGCCTGTGTATGCTGCTATTTATGGGTAA
CTTTATGGAAAACTACCTCCCACCCCATTATAAAAACTATGTAATAAAGGAACACATAGCCATTGTAG-3'

[Top]

RS ID: 3092905 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49039159

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 2 E [Glu] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTTTTTTTTTTTTTACTGTTCTTCCTCAGACATTCAAACGTGTTTTGATCAAAG A/G AGAGGAGTATGATTCTATTATAGTAT
TCTATAACTCGGTCTTCATGCAGAGACTGAAAACAAATATTTTGCAGTATGCTTCCACCAGGGTAGGTCAAAAGTATCCTTTGATTGGAA
AAATCTAATGTAATGGGTCCACCAAAACATTAAATAAATAATCTACTTTTTTGTTTTTGCTCTAGCCCCCTACCTTGTCACCAATACCTC
ACATTCCTCGAAGCCCTTACAAGTTTCCTAGTTCACCCTTACGGATTCCTGGAGGGAACATCTATATTTCACCCCTGAAGAGTCCATATA
AAATTTCAGAAGGTCTGCCAACACCAACAAAAATGACTCCAAGATCAAGGTGTGTGTTTTCTCTTTAGGGAAGTAGTAAAGAATGAGAGG
G-3'

[Top]

RS ID: 3092903 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
13 49033954

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 3 D [Asp] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGGGAAAGAAAAGAGTGGTAGAAAAGAGGTTTCTGTTAAAATGCTACTTAACAGCATTATAATTAGAGCRATTTCATGATTTGAAA
AAAATCTACTTGTAATTCAAAATGAACAGTAAAAATGACTAATTTTTCTTATTCCCACAGTGTATCGGCTAGCCTATCTCCGGCTAAATA
CACTTTGTGAACGCCTTCTGTCTGAGCACCCAGAATTAGAACATATCATCTGGACCCTTTTCCAGCACACCCTGCAGAATGAGTATGAAC
TCATGAGAGA C/G AGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTTCTCTCCTCC-3'

[Top]

RS ID: 3092902 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48919246

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 3 E [Glu] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATAATAGAGGTGTAAGTTGAAGGCTAATTRTTTTTGCAAAAAGTAATTCCTTCCAAAGGATATAGTAGTGATTTGATGTAGAGCTG
ATAATCTTTTGAATTGAAATATCTATGATTTGAAAACGAAATAACACAAATTTTTAAGGTTACTGATTTACTTTTTTCTATTCTTTCCTT
TGTAGTGTCCATAAATTCTTTMACTTACTAAAAGA A/T ATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAA
GTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGTAAAGTAAACATTTTATTAGGKTTACACTCTGATTTTTTATGTCRTTGTT
CACAATTAGATTCTGGGAATTATTTAACACATTTAGTAAAGTTAGTAAGTATTAATTCTTAGACTTGTCCCTTTTAATGTTAGC-3'

[Top]

RS ID: 3092900 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48919232

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 1 N [Asn] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATAATAGAGGTGTAAGTTGAAGGCTAATTRTTTTTGCAAAAAGTAATTCCTTCCAAAGGATATAGTAGTGATTTGATGTAGAGCTG
ATAATCTTTTGAATTGAAATATCTATGATTTGAAAACGAAATAACACAAATTTTTAAGGTTACTGATTTACTTTTTTCTATTCTTTCCTT
TGTAGTGTCCATAAATTCTTT A/C ACTTACTAAAAGAWATTGATACCAGTACCAAAGTTGATAATGCTATGTCAAGACTGTTGAAGAA
GTATGATGTATTGTTTGCACTCTTCAGCAAATTGGAAAGGTAAAGTAAACATTTTATTAGGKTTACACTCTGATTTTTTATGTCRTTGTT
CACAATTAGATTCTGGGAATTATTTAACACATTTAGTAAAGTTAGTAAGTATTAATTCTTAGACTTGTCCCTTTTAATGTTAGC-3'

[Top]

RS ID: 3092896 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49027229

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATGTACCTGGGAAAATTATGCTTACTAATGTGGTTTTAATTTCATCATGTTTCATATAGGATTCACCTTTWTTTGATCTTATTAAA
CAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATA A/G TCACACTGCAGC
AGATATGTAAGCAAAATATATGTTATGTTGACCATTCAAACTGCAAATAGATTTTAAGCATAAGTGCAATGTAACATTCTATAAAGAAAC
TGTAGGGAATAGAATTTTGAATAAGAATAGTTTCTGTTTTTAAGAAATTAGTAATAAAAGGTACATGACCCAAATAAAGTCATATAAAAG
AGTACAGAGTGCTACTGAATCACCTAGGATTTGCATAATGAGAGCAGTTTTCATGGCAGAGTTG-3'

[Top]

RS ID: 3092895 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 49027140

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 3 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATGTACCTGGGAAAATTATGCTTACTAATGTGGTTTTAATTTCATCATGTTTCATATAGGATTCACCTTT A/T TTTGATCTTAT
TAAACAATCAAAGGACCGAGAAGGACCAACTGATCACCTTGAATCTGCTTGTCCTCTTAATCTTCCTCTCCAGAATARTCACACTGCAGC
AGATATGTAAGCAAAATATATGTTATGTTGACCATTCAAACTGCAAATAGATTTTAAGCATAAGTGCAATGTAACATTCTATAAAGAAAC
TGTAGGGAATAGAATTTTGAATAAGAATAGTTTCTGTTTTTAAGAAATTAGTAATAAAAGGTACATGACCCAAATAAAGTCATATAAAAG
AGTACAGAGTGCTACTGAATCACCTAGGATTTGCATAATGAGAGCAGTTTTCATGGCAGAGTTG-3'

[Top]

RS ID: 3092891 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
13 48953730

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000321 Link_out NP_000312 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACAGCTATCTTGAAAATACATGTCCTAGGTCATGAGAAATGTTATATAAGGTACATAAAGTGCTTAAAATAGTACTGGGCACATAA
CCTATCTTTAGTATGAATGATATAAACTGAAATGGAGTTAAGGAAATCCAGGTACTGGACCTACCCTCTTGTTAATTTACTTGGGAATGT
TAATCACCACTTAATACTTAAGTTGTGAGTTTTAGACAAGCTAGCTTTTGTGTTGTCTTGGCGGCCATATTTGTAAGAAGGGTGAGAAGT
ATGTTTTAAGAAAAGGCTTTTTAAAAAATTTTAGTAATTGTCAGCTGGGTATAGTGGTACATGCCTATAATCCCAGCCTCTTGGGAGGCC
AAAGCAGGAGGATCTCTTGAGCCCAGGAGTGTGAAGGCCAGCCTGGGCAAAACAGTGAGACTCCATCTCAAAAAAAAAAAAAATTTCATA
ATTGTGATTTTCTAAAATAGCAGGCTCTTATTTTTCTTTTTGTTTGTTTGTAG C/T GATACAAACTTGGAGTTCGCTTGTATTACCGA
GTAATGGAATCCATGCTTAAATCAGTAAGTTAAAAACAATATAAAAAAATTTCAGCCGGGCGCGGTGGCTCACGCCTGCAATCCCAGCAC
TTTGGGAGGCCGAGGTGGGCAGATCAGGAGGTCAAGGCATCAAGATCATCCTGGCCAAAATGGTGAAACCCTGTCTCTACTAAAAGTACA
AAAATTAGCTGGGCGTGGTGGTGTAGACCTGTAGTCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATCCCTTGAACCAGGGAGGTGGAGG
TTGCAGTGAGCCAAGATTGTGCCATTTCACCCCAGCCTGGCAACAGAGCAAGACACCATCTAAAAAAAAAAAAAAAAAAAAAAAAAATTC
AATGCTGACACAAATAAGGTTTCAATTAAACAACTTCTTTTTTTTTTTTTAAATTATCTGTTTCAGGAAGAAGAACGATTATCCATTCAA
AATTTTAGGTAAATTTTT-3'

[Top]

RS ID: 2233573 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985975

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001162497 Link_out NP_001155969 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001162498 Link_out NP_001155970 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_005767 Link_out NP_005758 Link_out 3 I [Ile] / I [Ile]
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGTGTAGATCGATTTCTGGCAATTGTCTACCCATTTAAGTCAAAGACTCTAAGAACCAAAAGAAATGCAAAGATTGTTTGCACTGG
CGTGTGGTTAACTGTGATCGGAGGAAGTGCACCCGCCGTTTTTGTTCAGTCTACCCACTCTCAGGGTAACAATGCCTCAGAAGCCTGCTT
TGAAAATTTTCCAGAAGCCACATGGAAAACATATCTCTCAAGGATTGTAATTTTCATCGAAATAGTGGGATTTTTTAT C/T CCTCTAA
TTTTAAATGTAACTTGTTCTAGTATGGTGCTAAAAACTTTAACCAAACCTGTTACATTAAGTAGAAGCAAAATAAACAAAACTAAGGTTT
TAAAAATGATTTTTGTACATTTGATCATATTCTGTTTCTGTTTTGTTCCTTACAATATCAATCTTATTTTATATTCTCTTGTGAGAACAC
AAACATTTGTTAATTGCTCAGTAGTGGCAGCAGTAAGGACAATGTACCCAATCACTCTCTGTATTGCT-3'

[Top]

RS ID: 1060587 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48985918

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001162497 Link_out NP_001155969 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001162498 Link_out NP_001155970 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_005767 Link_out NP_005758 Link_out 3 P [Pro] / P [Pro]
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTTTAAATGTAACTTGTTCTAGTATGGTGCTAAAAACTTTAACCAAACC A/T GTTACATTAAGTAGAAGCAAAATAAACAAAAC
TAAGGTTTTAAAAATGAT-3'

[Top]

RS ID: 1060585 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map

Details:

Chromosome Reference Position
13 48986463

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_000321 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001162497 Link_out NP_001155969 Link_out 1 I [Ile] / V [Val]
missense NM_001162498 Link_out NP_001155970 Link_out 1 I [Ile] / V [Val]
missense NM_005767 Link_out NP_005758 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTACACTTTGTATGGGTGCATGTTCAGCATGGTGTTTGTGCTTGGGTTA A/G TATCCAATTGTGTTGCCATATACATTTTCATC
TGCGTCCTCAAAGTCCGA-3'

[Top]

RS ID: 1049722 Link_out

Alleles: A/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
13 48947586

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000321 Link_out NP_000312 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTAGGACTGTTATGAACACTATCCAACAATTAATGATGATTTTAAATTC A/T GCAAGTGATCAACCTTCAGAAAATCTGATTTC
CTATTTTAACAACTGCAC-3'

[Top]

RS ID: 1049721 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
13 48942715

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000321 Link_out NP_000312 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGAAACACAGAGAACACCACGAAAAAGTAACCTTGATGAAGAGGTGAAT A/G TAATTCCTCCACACACTCCAGTTAGGACTGTT
ATGAACACTATCCAACAA-3'