SNPJam Report for PMS2

Showing coding SNPs for PMS2 (Gene ID: 5395)

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: 63750668 Link_out

Alleles: G/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026708

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGG
GGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCA
GGAAGATACCGGATGTAAATTTC G/T AGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAA
TTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGA
AAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAA-3'

[Top]

RS ID: 121434630 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6043634

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 3 C [Cys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAACTATTTAGTCTGGGCTAGTAAATAGCCAGAAAGGACTTTATAACAATGAAATATACAAAATGACACTAGTATGTTTAACTAAA
GGTATAGTTATGACTCTTAAATTTGCATATGTTATAAATAATGTCAATATAAAAACTGATAGCATGGGTCCGTTTTTAATAAATATGTAA
ATATTTTAAACTTTCTAGATCTAAAGCTTAAGGACTATGGAGTGGATCTTATTGAAGTTTCAGACAATGGATG A/T GGGGTAGAAGAA
GAAAACTTCGAAGGCTTAAGTAAGTTGACTTTTTCTAATCCTATTATAAAATAATTGGGTCACATGTCTCAGAATTTTGAGTAACACTGT
CTTGGGAAATGCAAAAACAGTTTTTTAAAGCCAGTTACTAGATATCATGTATATTTTGTTGTTATAGCACTTGAGATATCTTAGTCCTTA
CTTTACACTCTCTTTCAGCTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGA-3'

[Top]

RS ID: 121434629 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6045549

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 S [Ser] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTATTTGCTAATATAATAAATGAATAGATTAGACCCATAAATTATTTACAGTGTTGAGTCATTTCCCACAGTTAAAATCAGGATG
AAAATATATAGCTGAATACTTGATTTGTTTCTTGTAACTGATTTCTCTAGTACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAG
TCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAAGGAGTTAGTAGAAAACA G/T TCTGGATGCTGG
TGCCACTAATATTGGTAAGTTTGGGAGAGTTTTAAGCCACAAGAAATGATCTGTGAATGTTGTTGTAGTTAAGAAACATTTGTTATTGAA
ATAAGACTATCAAGTGTTGATGTAGTAATAAATTATTATTTTTAAGTTGAAGTTAGCACCTATTATGTGCCTAGTACTTAGCTAGGTAGT
AATAATAATAACAGCTTTTATTGTGTTCTTACGGTGTGCCAGGCAGGTGTTATGCTAA-3'

[Top]

RS ID: 116788608 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6035211

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGTAGACTTCTGTAAATGCACAAAATAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATC
AGAAAAAAGTTATCAATTAAAAGTCAAAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCC
GGTTGATAAAGAAAAACTGTCTG C/T CTGTTGAACTCCTTCCAACTCCATGCGTGCATTGTGAAATGAAACCTGAGATGCTATTCAAC
ATTAATATGGTAAGGGCAGGATTCCAGAGTGAAAGGGATTAGAAATACGATCACATGGCACATTCTTAAAGTGAAATGAAAACAAAACAC
CAGGTGACATGCTGATAAGGATCACTATTGCAGTTCACGGGTATCTGT-3'

[Top]

RS ID: 116481522 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6035237

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCA
AAGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCT
GTTGAACTCCTTCCAACTCCATG C/T GTGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCA
GAGTGAAAGGGATTAGAAATACGATCACATGGCACATTCTTAAAGTGAAATGAAAACAAAACACCAGGTGACATGCTGATAAGGATCACT
ATTGCAGTTCACGGGTATCTGTGCTCCAAATCTTGATGAGTCATCAAA-3'

[Top]

RS ID: 116373169 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042238

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTA
GTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACA
TCAGTCGAGTTCCAACCTTCGCC A/G ATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGT
GAGAGACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGA
TAATCAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTG-3'

[Top]

RS ID: 116349687 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042124

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTTAAGTCTTTAATGTTAAATCTTTAATGAGAAATGCAAATAAAGCATTTCTCAATAATTTATGGGAAGAGAATCAACTGAAGAAT
AAACATCTTTAGTAAATCTTTTGCTCATGTGCATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTT
GAAATTCCTTATGGCGCACAGGT A/G GTGTGGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTC
TGGATAATTTTCCCATTGTGATCAAACATCAGTCGAGTTCCAACCTTCGCCGATGCGTGGCAGGTAGAAATGGTGACATCGCTGTGAGAG
AATACCAGGCATGGTGTGTTCAGTGAGAGACCCATGATGTTGGGCACT-3'

[Top]

RS ID: 116314131 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6031648

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACAGAGCAAGACCCCGTCTCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGA
GCTGTAGAATTTCATTTTATTCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAA
GAACAACAAATGGATACTGGTGT C/T GATTATACATGTGGTAGACCTCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAG
AAAAGAATAAATGACAAATGTTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTT
TTTGTTTTTTTTTTTTTTGAGTCAAGGTCTCGCCTTGTCACAGCCTGG-3'

[Top]

RS ID: 116094787 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026896

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCT
TTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGG
ATGCTGAACCCCTCAGAATCCAC A/G GAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCC
GTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTT
CTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGTGAGG-3'

[Top]

RS ID: 115670442 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026688

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 N [Asn] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGC
TACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACG
CTTTGTGTTTGGGGTTGCGAGAT C/T AGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCA
CATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCAT
ACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAG-3'

[Top]

RS ID: 115052399 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6026787

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTT
TGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGA
GTCGTCAGTTTTAGGCGCTTTCT C/T CTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGC
TGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGT
CCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAG-3'

[Top]

RS ID: 114185660 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6031668

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 E [Glu] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAAAAAAAAACAAAAACAAAAAACTTACATGACCATAAATTGTTATCTCATTCCAGTCATAGCAGAGCTGTAGAATTTCATTTTAT
TCTTTGAGGCATTAGTCACTAGTTGTACTGAAATGCCAATGGAACTTACCTGAATCAACAGAAATGTTAAGAACAACAAATGGATACTGG
TGTCGATTATACATGTGGTAGAC C/G TCATTCACGAGTCTGCAGACCTGCACAAAATACAAGGAGTAGAAAAGAATAAATGACAAATG
TTCCCAGCCCCCCGCATTCTAACAACATTCTATTCTAACCAACCAGCATGTTCTTAGAAGGGGATACTTTTTTGTTTTTTTTTTTTTTGA
GTCAAGGTCTCGCCTTGTCACAGCCTGGAGTGCAGTGGAGCAATCATG-3'

[Top]

RS ID: 114090343 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6042242

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATTAACCAATACTCTTGAAAACCAGGATTAATTTACTGTACCTTCTTAATATTCCTTTGAAATTCCTTATGGCGCACAGGTAGTGT
GGAAAATAACTGCTGCACGCTGACTGTGGTCCCTCTGGGGCGGGGGTAGGGGGTTTTCTGGATAATTTTCCCATTGTGATCAAACATCAG
TCGAGTTCCAACCTTCGCCGATG C/T GTGGCAGGTAGAAATGGTGACATCGCTGTGAGAGAATACCAGGCATGGTGTGTTCAGTGAGA
GACCCATGATGTTGGGCACTGACTACTCTTTTCTTCACTTGCTTTTCTCTCAAAATTTTCTTAAAAAGCTGACGATCCCTCTGAGATAAT
CAAGATCTAAATGGTTGAGGAGTCATCATAAAATCTAAGGTTTGGCAT-3'

[Top]

RS ID: 114037612 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026723

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 T [Thr] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTAT
TTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAG
GCAAAACTCGAAATTTACATCCG G/T TATCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTC
TCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATG
CTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTC-3'

[Top]

RS ID: 113726095 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026740

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTCATGATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTA
CATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCT
TTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGA A/G TGGCAGTCCACA
TCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATAC
TCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCCACCTCC
GCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTC-3'

[Top]

RS ID: 112902065 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6027116

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTT
TGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTCCTTCTTGGTTCTGGAGTCTTTGGGCTGT
GAGGCTTGTTCTCTGTTGTGTGA C/T GAAGAGAAAAGGCCTCTCGCAGTCTGGAAATGGACACGTCTTTTTTTTCTTCTCCAGTCCTT
AATGAAGGGGATTGATCCTGCTTTTCTACCATGGGCTTTTCCAAATCCGCTGCATGCATTTTTATTAAGTTACCTAAGCAAACGTGGACG
GAGAAGAGGGTCAGGGACTATCCTGAAATGGTGAGAGGACGTGCTTAT-3'

[Top]

RS ID: 112104877 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026696

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 Q [Gln] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGTAACTGCTTTATTCGTTTAGCTAAAGAACTCATAGAAAAGTCCAGGGGCACAACTTTCTTATTAATTTTCACAGCTACATCAA
CCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGT
TTGGGGTTGCGAGATTAGTTGGC C/T GAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCACATCTGAA
AAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCATACTCGCTG
CTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACG-3'

[Top]

RS ID: 111673299 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026767

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 D [Asp] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCACAGCTACATCAACCTGAGAGGCTGACATGTCCTGAGTATTTACTAACTTTTGACAAATGTCAGAACTGGAAAGAATTTCTTCT
TTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGG
CAGTCCACATCTGAAAAAGAGTC A/G TCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGA
GCTGGCCGCATACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTC
CTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGA-3'

[Top]

RS ID: 74902811 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6026864

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTATCTTCCTGGTTTGAATGGCAGTCCA
CATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCCCTGTCCCCTGGGGAGCTGGCCGCAT
ACTCGCTGCTGCAGTGACTGCCC A/G TGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGTGCTGCCGTGCCCCGAGTCCTTCTCC
ACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCTCAGGACGCCTTTGTCAGAGATGGCA
CCTGAAGTGCTAGAAGACAGCATACCCCTTTTCTGTCCTAGAGGGCTC-3'

[Top]

RS ID: 63751466 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6017260

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAAAGTGCAGGGATTACAGGCGTGAGCCACCACGCCCGGCCTCAGATGTTCATCCTAAGTAGCTTTCAAGTGAAACGTGTTTGTCA
AGTCATGGATTTTTCTCAAAATTGTATTCTTTTAGCTCCAGTCACTGAAAGGGCTAAACTGATTTCCTTGCCAACTAGTAAAAACTGGAC
CTTCGGACCCCAGGACGTCGATGAACTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCC C/T GAGTCAAGCAGA
TGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTC
AGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCT
GAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTG-3'

[Top]

RS ID: 63751459 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026649

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCG
TTTTAAAAAAGAA A/G AAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATG
TAGCTGTGAAAATTAATAAGAAAGTTGT-3'

[Top]

RS ID: 63751451 Link_out

Alleles: AC/CG

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026864

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 2 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTC
AGCATCCCAGACA AC/CG GGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACT
CTCAGGAGAAAGCGCCTAAAACTGACGACT-3'

[Top]

RS ID: 63751422 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026469

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCA
AAGTGAAGGGGAA C/T AGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCCGAAGATGAACTAAGAAAAG
AGATAAGTAAAACGATGTTTGCAGAAAT-3'

[Top]

RS ID: 63751323 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026591

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 A [Ala] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACT
CAGGACATGTCAG C/G CTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGC
TAAACGAATAAAGCAGTTACATCATGAA-3'

[Top]

RS ID: 63751300 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026837

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 A [Ala] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGC
AGCAGCGAGTATG C/T GGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGA
CTCTTTTTCAGATGTGGACTGCCATTCA-3'

[Top]

RS ID: 63751257 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026825

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTAT
GCGGCCAGCTCCC A/C AGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGA
TGTGGACTGCCATTCAAACCAGGAAGAT-3'

[Top]

RS ID: 63751253 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026543

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 L [Leu] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAG
AAAGTTGTGCCCC G/T GGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGA
ACAGAATTACAGGAAGTTTAGGGCAAAG-3'

[Top]

RS ID: 63751230 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026559

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 K [Lys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGC
TGTGAAAATTAAT A/T AGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCAC
AGCAAAGTGAAGGGGAACAGAATTACAG-3'

[Top]

RS ID: 63751228 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026985

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAGACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGG
CGTCCTGAGACCT C/T AGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGG
GGCACGGCAGCACTTCCGTGGATTCTGA-3'

[Top]

RS ID: 63751211 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026679

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCC
AACTAATCTCGCA A/T CCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATA
CTCAGGACATGTCAGCCTCTCAGGTTGA-3'

[Top]

RS ID: 63751209 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026511

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 I [Ile] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTC
TTTAGCTAAACGA A/T TAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTT
GTCCTGGAGAAAATCAAGCAGCCGAAGA-3'

[Top]

RS ID: 63751132 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026829

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 S [Ser] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGA
GTATGCGGCCAGC A/T CCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTT
CAGATGTGGACTGCCATTCAAACCAGGA-3'

[Top]

RS ID: 63751028 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026877

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 S [Ser] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGA
TTCTGAGGGGTTC A/T GCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGG
AACATGTGGACTCTCAGGAGAAAGCGCC-3'

[Top]

RS ID: 63751023 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026682

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 A [Ala] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCA
GCCAACTAATCTC A/G CAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAA
ATACTCAGGACATGTCAGCCTCTCAGGT-3'

[Top]

RS ID: 63750999 Link_out

Alleles: GG/TC

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026888

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 2 S [Ser] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAG
CACTTCCGTGGAT GG/TC TGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGAC
AGGGGCTCGCAGGAACATGTGGACTCTCAG-3'

[Top]

RS ID: 63750994 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026622

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAG
TTCTGACATTTGT C/T AAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTG
TGCCCCTGGACTTTTCTATGAGTTCTTT-3'

[Top]

RS ID: 63750989 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026603

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 Q [Gln] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAG
TTAGTAAATACTC A/C GGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTAT
GAGTTCTTTAGCTAAACGAATAAAGCAG-3'

[Top]

RS ID: 63750980 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026526

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 S [Ser] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGA
CTTTTCTATGAGT G/T CTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGT
TTAGGGCAAAGATTTGTCCTGGAGAAAA-3'

[Top]

RS ID: 63750947 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026643

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 L [Leu] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAA
AAAAGAAGAAATT A/C TTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTG
TGAAAATTAATAAGAAAGTTGTGCCCCT-3'

[Top]

RS ID: 63750890 Link_out

Alleles: CG/GT

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026635

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 S [Ser] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAA
GAAATTCTTTCCA CG/GT TCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAA
TTAATAAGAAAGTTGTGCCCCTGGACTTTT-3'

[Top]

RS ID: 63750871 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042221

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTAGTGCTCTCTGTCTCACTGTCTTTTAGATGCCAAACCTTAGATTTTATGATGACTCCTCAACCATTTAGATCTTGATTATCTCAG
AGGGATCGTCAGCTTTTTAAGAAAATTTTGAGAGAAAAGCAAGTGAAGAAAAGAGTAGTCAGTGCCCAACATCATGGGTCTCTCACTGAA
CACACCATGCCTGGTATTCTCTCACAGCGATGTCACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGAACT C/T GACTGATGTTTG
ATCACAATGGGAAAATTATCCAGAAAACCCCCTACCCCCGCCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTG
TGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGGTACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGCAAAA
GATTTACTAAAGATGTTTATTCTTCAGTTGATTCTCTTCCCATAAATTATTGAGAAAT-3'

[Top]

RS ID: 63750835 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026522

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 2 L [Leu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTT
TCTATGAGTTCTT A/T AGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAG
GGCAAAGATTTGTCCTGGAGAAAATCAA-3'

[Top]

RS ID: 63750826 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026866

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 D [Asp] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGT
TCAGCATCCCAGA A/C ACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGAC
TCTCAGGAGAAAGCGCCTAAAACTGACG-3'

[Top]

RS ID: 63750788 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026584

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 Q [Gln] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACA
TGTCAGCCTCTCA A/G GTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGA
ATAAAGCAGTTACATCATGAAGCACAGC-3'

[Top]

RS ID: 63750770 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026663

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACC
CCAAACACAAAGC G/T TTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGC
CTCTCAGGTTGATGTAGCTGTGAAAATT-3'

[Top]

RS ID: 63750739 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026652

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAA
GCGTTTTAAAAAA A/G AAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTG
ATGTAGCTGTGAAAATTAATAAGAAAGT-3'

[Top]

RS ID: 63750686 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026820

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 D [Asp] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGC
CAGCTCCCCAGGG A/G ACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGG
ACTGCCATTCAAACCAGGAAGATACCGG-3'

[Top]

RS ID: 63750685 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026959

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 H [His] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAG
TGAGTTCCAGTCA C/G GGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCT
GAGGGGTTCAGCATCCCAGACACGGGCA-3'

[Top]

RS ID: 63750649 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026840

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 Y [Tyr] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCAC
TGCAGCAGCGAGT A/G TGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGA
CGACTCTTTTTCAGATGTGGACTGCCAT-3'

[Top]

RS ID: 63750598 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026655

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACAC
AAAGCGTTTTAAA A/G AAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGG
TTGATGTAGCTGTGAAAATTAATAAGAA-3'

[Top]

RS ID: 63750594 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026602

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 Q [Gln] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGT
TAGTAAATACTCA A/G GACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATG
AGTTCTTTAGCTAAACGAATAAAGCAGT-3'

[Top]

RS ID: 63750593 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026614

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACA
TTTGTCAAAAGTT A/T GTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTG
GACTTTTCTATGAGTTCTTTAGCTAAAC-3'

[Top]

RS ID: 63750553 Link_out

Alleles: AG/GA

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026636

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 S [Ser] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGA
AGAAATTCTTTCC AG/GA TTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAA
ATTAATAAGAAAGTTGTGCCCCTGGACTTT-3'

[Top]

RS ID: 63750535 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026778

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 P [Pro] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTC
TCAGGAGAAAGCG A/C CTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAG
TTTTGCCTCAGCCAACTAATCTCGCAAC-3'

[Top]

RS ID: 63750534 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026664

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAAC
CCCAAACACAAAG C/T GTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAG
CCTCTCAGGTTGATGTAGCTGTGAAAAT-3'

[Top]

RS ID: 63750503 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026870

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAG
GGGTTCAGCATCC A/C AGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGT
GGACTCTCAGGAGAAAGCGCCTAAAACT-3'

[Top]

RS ID: 63750490 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026556

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 K [Lys] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGT
GAAAATTAATAAG A/T AAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGC
AAAGTGAAGGGGAACAGAATTACAGGAA-3'

[Top]

RS ID: 63750477 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026628

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCT
TTCCAGTTCTGAC -/A TTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGA
AAGTTGTGCCCCTGGACTTTTCTATGAG-3'

[Top]

RS ID: 63750476 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026628

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 I [Ile] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCT
TTCCAGTTCTGAC A/C TTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGA
AAGTTGTGCCCCTGGACTTTTCTATGAG-3'

[Top]

RS ID: 63750456 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026594

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAAT
ACTCAGGACATGT C/T AGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTT
AGCTAAACGAATAAAGCAGTTACATCAT-3'

[Top]

RS ID: 63750451 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026514

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 R [Arg] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAAC
CCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTC
TCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAA C/T GAATAAAGCAGT
TACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCCGAAG
ATGAACTAAGAAAAGAGATAAGGTAAAGTTTTAATTTTTTACTTTTTCTCTTTTTATCTAAAATTTTTATTTTTATTTTTTATTTTTTTG
AGACAGAGTCTTGCTCTGTTGCGCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACT-3'

[Top]

RS ID: 63750392 Link_out

Alleles: CC/GA

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026600

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 2 D [Asp] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTT
AGTAAATACTCAG CC/GA CATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATG
AGTTCTTTAGCTAAACGAATAAAGCAGTTA-3'

[Top]

RS ID: 63750354 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026890

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 D [Asp] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCA
GCACTTCCGTGGA A/T TCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGAC
AGGGGCTCGCAGGAACATGTGGACTCTC-3'

[Top]

RS ID: 63750343 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026574

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTC
TCAGGTTGATGTA G/T CTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGT
TACATCATGAAGCACAGCAAAGTGAAGG-3'

[Top]

RS ID: 63750332 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026586

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_000535 Link_out NP_000526 Link_out 1 Q [Gln] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGA
CATGTCAGCCTCT C/T AGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAAC
GAATAAAGCAGTTACATCATGAAGCACA-3'

[Top]

RS ID: 63750278 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026605

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAA
AGTTAGTAAATAC C/T CAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCT
ATGAGTTCTTTAGCTAAACGAATAAAGC-3'

[Top]

RS ID: 63750272 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026874

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 I [Ile] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTC
TGAGGGGTTCAGC A/C TCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAAC
ATGTGGACTCTCAGGAGAAAGCGCCTAA-3'

[Top]

RS ID: 63750260 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026596

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAA
ATACTCAGGACAT G/T TCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCT
TTAGCTAAACGAATAAAGCAGTTACATC-3'

[Top]

RS ID: 63750250 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026564

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 1 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGAT
GTAGCTGTGAAAA -/A TTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATG
AAGCACAGCAAAGTGAAGGGGAACAGAA-3'

[Top]

RS ID: 63750236 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026818

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 D [Asp] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCA
GCTCCCCAGGGGA A/C AGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGAC
TGCCATTCAAACCAGGAAGATACCGGAT-3'

[Top]

RS ID: 63750221 Link_out

Alleles: AG/GA

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026858

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 S [Ser] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCAT
CCCAGACACGGGC AG/GA TCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAG
GAGAAAGCGCCTAAAACTGACGACTCTTTT-3'

[Top]

RS ID: 63750123 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6045634

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGGAGCGAGCTGAGAGCTCGAGTACAGAACCTGCTAAGGCCATCAAACCT A/G TTGATCGGAAGTCAGTCCATCAGATTTGCTC
TGGGCAGGTGGTACTGAGTCTAAGCACTGCGGTAAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGC-3'

[Top]

RS ID: 63750106 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6027089

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 1 R [Arg] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAGACTGCGAGAGGCCTTTTCTCTTCGTCACACAACAGAG
AACAAGCCTCACA -/A GCCCAAAGACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAG
GTGCCATCTCTGACAAAGGCGTCCTGAG-3'

[Top]

RS ID: 63750101 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026616

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 L [Leu] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGA
CATTTGTCAAAAG G/T TAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCC
TGGACTTTTCTATGAGTTCTTTAGCTAA-3'

[Top]

RS ID: 63750100 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026598

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 M [Met] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGT
AAATACTCAGGAC A/C TGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTT
CTTTAGCTAAACGAATAAAGCAGTTACA-3'

[Top]

RS ID: 63750055 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026685

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 L [Leu] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATG
TGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTC
GAGTTTTGCCTCAGCCAACTAAT A/C TCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGT
CAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCT
ATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAG-3'

[Top]

RS ID: 63750049 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6029554

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAGGTCTACCACATGTATAATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTTGATTCAGAATGCGTTGATATCAATGT
TACTCCAGATAAA -/A GGCAAATTTTGCTACAAGAGGAAAAGCTTTTGTTGGCAGTTTTAAAGACCTCTTTGATAGGAATGTTTGATA
GTGATGTCAACAAGCTAAATGTCAGTCA-3'

[Top]

RS ID: 63750024 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026498

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 H [His] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGA
ATAAAGCAGTTAC A/T TCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAA
TCAAGCAGCCGAAGATGAACTAAGAAAA-3'

[Top]

RS ID: 63749943 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026572

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTC
AGGTTGATGTAGC C/T GTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTA
CATCATGAAGCACAGCAAAGTGAAGGGG-3'

[Top]

RS ID: 63749862 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6043349

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAAGAAGAAAACTTCGAAGGCTTAACTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGACCTAACTCAGGTTGAAACTTT
TGGCTTTCGGGGG A/G AAGCTCTGAGCTCACTTTGTGCACTGAGCGATGTCACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGAA
CTCGACTGATGTTTGATCACAATGGGAA-3'

[Top]

RS ID: 63749826 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6026665

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_000535 Link_out NP_000526 Link_out 2 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAA
CCCCAAACACAAA -/A GCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTC
AGCCTCTCAGGTTGATGTAGCTGTGAAA-3'

[Top]

RS ID: 56203955 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6045597

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 Q [Gln] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTTTTCTACTAAC
TCCTTTACCGCAGTGCTTAGACTCAGTACCACC G/T GCCCAGAGCAAATCTGATGGACTGACTTCCGATCAATAGGTTTGATGGCCTT
AGCAGGTTCTGTACTAGAGAAATCAGTTACAAGAAACAAATCAAGTATTCAGCTATATATTTTCATCC-3'

[Top]

RS ID: 36038802 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042143

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 Q [Gln] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAATTATCCAGAAAACCCCCTACCCCCG
CCCCAGAGGGACCACAGTCAGCGTG A/C AGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 35943120 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6045562

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 L [Leu] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTTGAGTCATTTCCCACAGTTAAAATCAGGATGAAAATATATAGCTGAATACTTGATTTGTTTCTTGTAACTGATTTCTCTAGTAC
AGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGT
AAAGGAG A/T TAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGGTAAGTTTGGGAGAGTTTTAAGCCACAAGAAATGATCTG
TGAATGTTGTTGTAGTTAAGAAACATTTGTTATTGAAATAAGACTATCAAGTGTTGATGTAGTAATAAATTATTATTTTTAAGTTGAAGT
TAGCACCTATTATGTGCCTAGTACTTAGCTAGGTAGTAATAATAATAACAGCTTTTATTGTGTTCTTACGGTGTGCCAGGCAGGTGTTAT
-3'

[Top]

RS ID: 35911407 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042203

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 N [Asn] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCAC A/G ATGGGAAAATTATCCAGAAAACCCCCTACC
CCCGCCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 35690297 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042215

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 M [Met] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTG A/G TGTTTGATCACAATGGGAAAATTATCCAGAAAACCCCCTACC
CCCGCCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 35650314 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042192

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAAT C/T ATCCAGAAAACCCCCTACC
CCCGCCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 35629870 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042169

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAATTATCCAGAAAACCCCCTACCCCC 
A/G CCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 35311046 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6042129

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAATGGGAAAATTATCCAGAAAACCCCCTACCCCCG
CCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTC C/T ACACTACCTGTGCGCCATAAGGAATTTCAAAGGAATATTAAGAAGG
TACAGTAAATTAATCCTGGTTTTCAAGAGTATTGGTTAATGCACATGAGC-3'

[Top]

RS ID: 34839707 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6045569

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTTGAGTCATTTCCCACAGTTAAAATCAGGATGAAAATATATAGCTGAATACTTGATTTGTTTCTTGTAACTGATTTCTCTAGTAC
AGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTAAGCACTGCGGT
 A/G AAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGGTAAGTTTGGGAGAGTTTTAAGCCACAAGAAATGATCTG
TGAATGTTGTTGTAGTTAAGAAACATTTGTTATTGAAATAAGACTATCAAGTGTTGATGTAGTAATAAATTATTATTTTTAAGTTGAAGT
TAGCACCTATTATGTGCCTAGTACTTAGCTAGGTAGTAATAATAATAACAGCTTTTATTGTGTTCTTACGGTGTGCCAGGCAGGTGTTAT
-3'

[Top]

RS ID: 12532895 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
7 6043386

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 A [Ala] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTACTGTTTTAATAAGGGTAACCATTTTTTTAACAATACTATTTGCTTCATTTCATTCATTTATTGCTCACATTTCAGAAGTACTA
TGACTTAGATTGGCAGCGAGACAAAACAGAATTCAGAAGCTAGAAGTTGAGATGTTGAGATAGAAAACTGAAAATAATAATGATTCCAAT
TAATTTTCAGAGAGGTTTCTCTAAGGGGTCAAGTGAGTGGATAAAAATATTGTATCACCTCAGTGCACAAAGTGAGCTCAGAGCTTCCCC
CCGAAAGCCAAAAGTTTCAACCTGAGTTAGGTC A/G GCAAACTCTTGAATCTTAGATGTGTGATGTTTCAGAGCTGAAAGAGAGTGTA
AAGTAAGGACTAAGATATCTCAAGTGCTATAACAACAAAATATACATGATATCTAGTAACTGGCTTTAAAAAACTGTTTTTGCATTTCCC
AAGACAGTGTTACTCAAAATTCTGAGACATGTGACCCAATTATTTTATAATAGGATTAGAAAAAGTCAACTTACTTAAGCCTTCGAAGTT
TTCTTCTTCTACCCCACATCCATTGTCTGAAACTTCAATAAGATCCACTCCATAGTCCTTAAGCTTTA-3'

[Top]

RS ID: 10254120 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 6045627

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCACATAATAGGTGCTAACTTCAACTTAAAAATAATAATTTATTACTACATCAACACTTGATAGTCTTATTTCAATAACAAATGTTT
CTTAACTACAACAACATTCACAGATCATTTCTTGTGGCTTAAAACTCTCCCAAACTTACCAATATTAGTGGCACCAGCATCCAGACTGTT
TTCTACTAACTCCTTTACCGCAGTGCTTAGACTCAGTACCACCTGCCCAGAGCAAATCTGATGGACTGACTTC C/T GATCAATAGGTT
TGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCAGTTACAAGAAACAAATCAAGTATTCAGCTATATATTTTCATCCTGATTTTAACTG
TGGGAAATGACTCAACACTGTAAATAATTTATGGGTCTAATCTATTCATTTATTATATTAGCAAATACATTTATTATATCCAGAAATAGA
AACACTGTTTTACAATCCTTAAACATGTACCCAAAATACTTCTGGATAGATACTTCAA-3'

[Top]

RS ID: 7809954 Link_out

Alleles: C/G

Validation:

  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
7 6037043

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAAAAAACTATTATCCCTagccaggcgtggtggctcatgcctgtaatcccagcactttgggacaccaaggtgggcggatcatctgag
gtcaggagttcgagaccagcctggccaacatggtgaaaccccgtctctactaaaaatacaaaattagccgggtgtggtggcacgtgcctg
taatcccagctactcaggaggctgaggcaggagaattgcttgaactcaggaggtagaggttgcagtgagccaagatagcaccattgcact
ccagcctgggcaacaaagcaagactccgtctcaagaaaaaaaaaaaaaGACACGAAACTATTAGCCTTAGAATCACTATCTTTAAAAAAA
AAGCTCTCAGGATAAAATGTTCAATTGTAGTTCTCTTGCCAGCAATCTACTTACTAAAAAAGATTATGCAGAGCATCGGAACAGCTCAAA
CCGTACTCTTCACACACGGAGTCACTAGGGGGCAGCTGAACAAAAGGAAT C/G AGGCTTTGCAACTGAAAAAAAAAAAAAAAAATTCA
CAGTTACTTCCTAATAAAGACAGAGTGGACTTAATCTGTTTTCTTTCTTAGTCAAGCTATTGACATTACAAGCGCAAAAAAAATTAAAAG
AATCttttgttttgttttgttttttgagacagggtctccctctattgcccaggctggagtacaatggctcaatcatacctcactgcaatg
tcaaactcgtgggttcaagcaatcctcctgcgtcagcctgtcgagtgagtagctgggactacaggtgcacaccaccacacctggctaatt
ttttaatttttttgtagagatgggatcttgccgtgttatccaagctggtcttaaattcctgggctcaagcgattctcccacctcAAAATt
gttggccgggtggttcaaacacataatcccaacagtttcctctcccagagtgctgggattacatgtgtgagccGTGGGAACAACAATTTT
GATTTTATGATATAAGAAAGATGAAACAAGTACCTACTTATTCAGAACC-3'

[Top]

RS ID: 6977072 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6049103

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_006303 Link_out NP_006294 Link_out 1 P [Pro] / A [Ala]
near-gene-5 NM_000535 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAAGGGAGGTGGCCGGTCTCCGTCGTGACCTCTGACGGTTTCTGAGCGTTGGCCTTTGGCACGCGCTACCCCCTTTTGCTTTGGTT
CTGCCATGCCGATGTACCAGGTAAAGCCCTATCACGGGGGCGGCGCGCCTCTCCGTGTGGAGCTTCCCACCTGCATGTACCGGCTCCCCA
ACGTGCACGGCAGGAGCTACGGC C/G CAGCGCCGGGCGCTGGCCACGTGCAGGTAGGAGCGCGGGGCCCCCCGCCCAGTGCGCACGCG
CGGCGACCGGCTGCTGGCCCGGGTCCCCCCAGGCCGGAGCGAGCGCGTCCCAACCGGTTCACGGCCCCACCCCGGCATCTGTGCCGGCCG
GCCAGGGACTCACTCAGACTTTTATGTTTTAAAAGATTTATCCAggccgggcgccgtggctcacgcctgtaatcccagcactttgggagg
ccgaggcgggcggatcacctgaggtcaggagttcgagactagcctggccaacatggtaaaacctcgtctctactaaaaatacagaaattg
gccgggtgtggtgaggcgcctgtaatcccagctactcgggaggctgaggcaggagaatcgtttgaaccctggaggcggagtttgcagtga
gctgagatcgagccattgcactcgagcctgggcaacaagagctaaactctatctcaaaaaaaaaaaaaaaaaaaaaaaaaaTataTATAT
ATATATATGTATGTATCTTT-3'

[Top]

RS ID: 6972869 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026839

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAGAATTTCTTCTTTTTTAAAACGCTTTGTGTTTGGGGTTGCGAGATTAGTTGGCTGAGGCAAAACTCGAAATTTACATCCGGTA
TCTTCCTGGTTTGAATGGCAGTCCACATCTGAAAAAGAGTCGTCAGTTTTAGGCGCTTTCTCCTGAGAGTCCACATGTTCCTGCGAGCCC
CTGTCCCCTGGGGAGCTGGCCGC A/G TACTCGCTGCTGCAGTGACTGCCCGTGTCTGGGATGCTGAACCCCTCAGAATCCACGGAAGT
GCTGCCGTGCCCCGAGTCCTTCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCGTGACTGGAACTCACTGCCTCTTTCTGAGGTCT
CAGGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGACAGCAT-3'

[Top]

RS ID: 3209663 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6045565

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCGTACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCCGGTAGTACTGAGTCTAAG
CACTGCGGTGAAG A/G AGATGGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGATCTAAAGCTTAAGGACTATGGAATGGATC
TCATTGAAGTTTCAGGCAATGGATGTGG-3'

[Top]

RS ID: 2228007 Link_out

Alleles: A/G

Validation:

  • By submitter
  • By cluster

Details:

Chromosome Reference Position
7 6026865

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 T [Thr] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCATCTCTGACAAAGGCGTCCTGAGAYCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAG
GTGGAGAAGGACTCGGGGCAYGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGAC A/G CGGGCAGTCACTGCAGCAGCGA
GTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTRAAACTGACGACTCTTTTTCAGA
TGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTA-3'

[Top]

RS ID: 2228006 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
7 6026775

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTCTCCGTCCACGTTTGCTTAGGTAACTTAATAAAAATGCATGCAGCGGATTTGGAAAAGCCCATGGTAGAAAAGCAGGATCAAT
CCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAGACTGCGAGAGGCCTTTTCTCTTCGTCACACAACAGAGAACA
AGCCTCACAGCCCAAAGACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGTGCCATCT
CTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGAGAAGG
ACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCT
CCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCT A/G AAACTGACGACTCTTTTTCAGATGTGGACTGC
CATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAA
GAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATT
AATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGG
GAACAGAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCCGAAGATGAACTAAGAAAAGAGATAAGGTAAAGT
TTTAATTTTTTACTTTTTCTCTTTTTATCTAAAAtttttatttttattttttatttttttgagacagagtcttgctctgttgcgcaggct
ggaatgcagtggcatgat-3'

[Top]

RS ID: 1805319 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6036980

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACGGCTCACACATGTAATCCCAGCACtctGGGAGAGGAAACTGTTGGGATTATGTGTTTGAACCACCCGGCCAACAATTTTgaggt
gggagaatcgcttgagcccaggaatttaagaccagcttggataacacggcaagatcccatctctacaaaaaaattaaaaaattagccagg
tgtggtggtgtgcacctgtagtcccagctactcactcgacaggctgacgcaggaggattgcttgaacccacgagtttgacattgcagtga
ggtatgattgagccattgtactccagcctgggcaatagagggagaccctgtctcaaaaaacaaaacaaaacaaaaGATTCTTTTAATTTT
TTTTGCGCTTGTAATGTCAATAGCTTGACTAAGAAAGAAAACAGATTAAGTCCACTCTGTCTTTATTAGGAAGTAACTGTGAATTTTTTT
TTTTTTTTTTCAGTTGCAAAGCCTCATTCCTTTTGTTCAGCTGCCCCCTAGTGACTCCGTGTGTGAAGAGTACGGTTTGAGCTGTTC C/
G GATGCTCTGCATAATCTTTTTTAGTAAGTAGATTGCTGGCAAGAGAACTACAATTGAACATTTTATCCTGAGAGCTTTTTTTTTAAAG
ATAGTGATTCTAAGGCTAATAGTTTCGTGTCtttttttttttttcttgagacggagtcttgctttgttgcccaggctggagtgcaatggt
gctatcttggctcactgcaacctctacctcctgagttcaagcaattctcctgcctcagcctcctgagtagctgggattacaggcacgtgc
caccacacccggctaattttgtatttttagtagagacggggtttcaccatgttggccaggctggtctcgaactcctgacctcagatgatc
cgcccaccttggtgtcccaaagtgctgggattacaggcatgagccaccacgcctggctAGGGATAATAGTTTTTTATGTCCTTTATAAAA
CTGTGAGCAATGCTGTGGCTAAGAAAGATGATTTATACAAAGGAGTCAG-3'

[Top]

RS ID: 1805324 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026530

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATT
CTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAA
GTTGTGCCCCTGGACTTTTCTAT A/G AGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACA
GAATTACAGGAAGTTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCCGAAGATGAACTAAGAAAAGAGATAAGGTAAAGTTTTAA
TTTTTTACTTTTTCTCTTTTTATCTAAAATTTTTATTTTTATTTTTTA-3'

[Top]

RS ID: 1805323 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026942

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 T [Thr] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGACTGCGAGAGGCCTTTTCTCTTCGTCACACAACAGAGAACAAGCCTCACAGCCCAAAGACTCCAGAACCAAGAAGGAGCCCTCT
AGGACAGAAAAGGGGTATGCTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTC
CAGTCACGGACCCAGTGACCCTA A/C GGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGT
TCAGCATCCCAGACACGGGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTC
AGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCC-3'

[Top]

RS ID: 1805322 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 6035238

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 2 T [Thr] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGATAATGTTAAAGCCATGTTTCTCAAAGTCCCGAGCTCCACGTAAACTGCCTATTATCAGAAAAAAGTTATCAATTAAAAGTCAA
AGGCATAAAGAACAAACTAACACAAAAAAATTTTAAATACCTTTGCTGGGTCACAAGGCCGCCGGTTGATAAAGAAAAACTGTCTGTCTG
TTGAACTCCTTCCAACTCCATGC G/T TGCATTGTGAAATGAAACCTGAGATGCTATTCAACATTAATATGGTAAGGGCAGGATTCCAG
AGTGAAAGGGATTAGAAATACGATCACATGGCACATTCTTAAAGTGAAATGAAAACAAAACACCAGGTGACATGCTGATAAGGATCACTA
TTGCAGTTCACGGGTATCTGTGCTCCAAATCTTGATGAGTCATCAAAG-3'

[Top]

RS ID: 1805321 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
7 6026988

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTgaactcctagcctcatgtgatccccctgccttggcctcctaaagtgctgggataacaggcgtaagccaccacacctggccCATAT
TATAGTTTTATTTTGAACATTGAACTGTGTTCATCTGTGTAATTAGCATGTGGATCTCCTCTTTTGTGAAGTATCTGTTCACATAAGCAC
GTCCTCTCACCATTTCAGGATAGTCCCTGACCCTCTTCTCCGTCCACGTTTGCTTAGGTAACTTAATAAAAATGCATGCAGCGGATTTGG
AAAAGCCCATGGTAGAAAAGCAGGATCAATCCCCTTCATTAAGGACTGGAGAAGAAAAAAAAGACGTGTCCATTTCCAGACTGCGAGAGG
CCTTTTCTCTTCGTCACACAACAGAGAACAAGCCTCACAGCCCAAAGACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTA
TGCTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA C/T CTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCC
AGTGACCCTACGGACAGAGCGGAGGTGGAGAAGGACTCGGGGCACGGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACG
GGCAGTCACTGCAGCAGCGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAA
ACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTC
GCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTGACATTTGTCAAAAGTTAGTAAATACTCAGGACATGTCA
GCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCCCTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAG
TTACATCATGAAGCA-3'

[Top]

RS ID: 1805320 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026908

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_000535 Link_out NP_000526 Link_out 3 H [His] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAGAGAACAAGCCTCACAGCCCAAAGACTCCAGAACCAAGAAGGAGCCCTCTAGGACAGAAAAGGGGTATGCTGTCTTCTAGCACT
TCAGGTGCCATCTCTGACAAAGGCGTCCTGAGACCTCAGAAAGAGGCAGTGAGTTCCAGTCACGGACCCAGTGACCCTACGGACAGAGCG
GAGGTGGAGAAGGACTCGGGGCA C/T GGCAGCACTTCCGTGGATTCTGAGGGGTTCAGCATCCCAGACACGGGCAGTCACTGCAGCAG
CGAGTATGCGGCCAGCTCCCCAGGGGACAGGGGCTCGCAGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTC
AGATGTGGACTGCCATTCAAACCAGGAAGATACCGGATGTAAATTTCG-3'

[Top]

RS ID: 1805318 Link_out

Alleles: A/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 6026607

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_000535 Link_out NP_000526 Link_out 1 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGAACATGTGGACTCTCAGGAGAAAGCGCCTAAAACTGACGACTCTTTTTCAGATGTGGACTGCCATTCAAACCAGGAAGATACCG
GATGTAAATTTCGAGTTTTGCCTCAGCCAACTAATCTCGCAACCCCAAACACAAAGCGTTTTAAAAAAGAAGAAATTCTTTCCAGTTCTG
ACATTTGTCAAAAGTTAGTAAAT A/T CTCAGGACATGTCAGCCTCTCAGGTTGATGTAGCTGTGAAAATTAATAAGAAAGTTGTGCCC
CTGGACTTTTCTATGAGTTCTTTAGCTAAACGAATAAAGCAGTTACATCATGAAGCACAGCAAAGTGAAGGGGAACAGAATTACAGGAAG
TTTAGGGCAAAGATTTGTCCTGGAGAAAATCAAGCAGCCGAAGATGAA-3'