SNPJam Report for FGFR2

Showing coding SNPs for FGFR2 (Gene ID: 2263)

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: 79184941 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123279677

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144917 Link_out NP_001138389 Link_out 2 S [Ser] / W [Trp]
missense NM_001144918 Link_out NP_001138390 Link_out 2 S [Ser] / W [Trp]
missense NM_001144919 Link_out NP_001138391 Link_out 2 S [Ser] / W [Trp]
missense NM_022970 Link_out NP_075259 Link_out 2 S [Ser] / W [Trp]
missense NM_001144913 Link_out NP_001138385 Link_out 2 S [Ser] / W [Trp]
missense NM_001144915 Link_out NP_001138387 Link_out 2 S [Ser] / W [Trp]
missense NM_000141 Link_out NP_000132 Link_out 2 S [Ser] / W [Trp]
missense NM_001144916 Link_out NP_001138388 Link_out 2 S [Ser] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTGGTCTCTCATTCTCCCATCCCCACTCCTCCTTTCTTCCCTCTCTCCACCAGAGCGAT C/G GCCTCACCGGCCCATCCTCCAA
GCCGGACTGCCGGCAAATGCCTCCACAGTGGTCGGAGG-3'

[Top]

RS ID: 77543610 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123279674

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144917 Link_out NP_001138389 Link_out 2 P [Pro] / R [Arg]
missense NM_001144918 Link_out NP_001138390 Link_out 2 P [Pro] / R [Arg]
missense NM_001144919 Link_out NP_001138391 Link_out 2 P [Pro] / R [Arg]
missense NM_022970 Link_out NP_075259 Link_out 2 P [Pro] / R [Arg]
missense NM_001144913 Link_out NP_001138385 Link_out 2 P [Pro] / R [Arg]
missense NM_001144915 Link_out NP_001138387 Link_out 2 P [Pro] / R [Arg]
missense NM_001144916 Link_out NP_001138388 Link_out 2 P [Pro] / R [Arg]
missense NM_000141 Link_out NP_000132 Link_out 2 P [Pro] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGA C/G GCGATCGCTCTGGTGGAGAGAG
GGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACC-3'

[Top]

RS ID: 74160617 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123260362

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGGAGGCTACCGCTTTCTAACAAAACTGGCTTTTCTTTATAAGTACACACAGCTCAAGATAAATAGTCTGTCCGAGATGCTGATTT
ATACCGAAAACTTCTCAACCCCTAGGTCAACTATGTGCTCTCTGACCCCGTGCCATGATAGAGTTCACATGCCACAAAAGGAACTTTCTT
GATAAGACTCTCCACCCAGCCCCTCCCCGAGCCTCCCGCCTCCCCGCTCACCTTTCAACATCTTCACGGCCAC A/G GTGACCGCCTCC
TTGGGCTTGTCTTTGTCAATTCCCACTGCTTCCGCCATGACCACTTGCCCAAAGCAACCTTCTCCCAGGGGCTTGCCCAGTGTCAGCCTA
AATGTGTAAATAGGGGATTAGCACATAGCATCTGGTGATGGGGTGTAGTGAGGGAAATTCCAGAACTAAATATAAAAATCTTTCAGCGGC
TTACTAAAGCATGGAGTGCTTATCATATGGAACTAATGAGACTTAGGGTACACACGCG-3'

[Top]

RS ID: 74160613 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123258109

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGGAACATCTTCCAATGGGGATTTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCAT
TTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCTGTGTGCAGGCTCCAAGAAGAT
TTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTC C/T GTGGCATCATCT
ATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCAT
GAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCT
CACTCTGTGTCAAAGAGCTCACTGGGGGGCCAATGGGGCCAAGAGTCAGGACGAGAGC-3'

[Top]

RS ID: 67982286 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123279638

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 2 Not Applicable
frameshift NM_001144918 Link_out NP_001138390 Link_out 2 Not Applicable
frameshift NM_001144919 Link_out NP_001138391 Link_out 2 Not Applicable
frameshift NM_022970 Link_out NP_075259 Link_out 2 Not Applicable
frameshift NM_001144913 Link_out NP_001138385 Link_out 2 Not Applicable
frameshift NM_001144915 Link_out NP_001138387 Link_out 2 Not Applicable
frameshift NM_000141 Link_out NP_000132 Link_out 2 Not Applicable
frameshift NM_001144916 Link_out NP_001138388 Link_out 2 Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAATAGCTGAACTATTCTCTCTCCAAGTTTAGTAGTTCTTCCCCAAGTTTAGTAGTTCTTCCCCTACTCCATAGTTCCCTTCTGAAA
TTCTACTAGCAAGTGTAATGATCTGTTAATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAAC
AGGAAATCAAAGAACCTGTGGCCAAACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTT
GAGGTAGGGCAGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAAC
CTTGCAGACAAACTCTACGTCTCCTCCGACCACTGTGGAGGCA -/T TTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATC
GCTCTGGTGGAGAGAGGGAAGAAAGGAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGTCCAGAGGGCTGTCAGTG
ACCTCATGCCAGAAAAGCCTCAAGCCTGCTGGCTGACACCTTTGAAATAACACTGTGGCCCCATGAATAACAGAAACGACTTCAAAGGAG
ACTGCCGGAGCGCGACCCTTGTAAAAAGAACACTTACTTAGAAAATTGAGAAAAGAACTTATTACATCCCAGGTTATTGGCTGTCCACTG
CCACCTGATGAATACGGGAAGAAATTCTACTCTGACAATCTAAGTGACAAATGGTAGGGGAGGGAAGCTTCTTCACTTATCCTATTT-3'

[Top]

RS ID: 67738896 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123258014

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 1 H [His] / A [Ala]
frameshift NM_001144918 Link_out NP_001138390 Link_out 1 H [His] / A [Ala]
frameshift NM_001144919 Link_out NP_001138391 Link_out 1 H [His] / A [Ala]
frameshift NM_022970 Link_out NP_075259 Link_out 1 H [His] / A [Ala]
frameshift NM_001144913 Link_out NP_001138385 Link_out 1 H [His] / A [Ala]
frameshift NM_001144914 Link_out NP_001138386 Link_out 1 H [His] / A [Ala]
frameshift NM_001144915 Link_out NP_001138387 Link_out 1 H [His] / A [Ala]
frameshift NM_000141 Link_out NP_000132 Link_out 1 H [His] / A [Ala]
frameshift NM_001144916 Link_out NP_001138388 Link_out 1 H [His] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGGATTCTTCAATCCCTGTTTTAAGGGAAGAACTTCTCAACCAAAACATAGGATCTTATTCTGACAAATCTCTCTTAGCACTTAC
AAAACAAAAACATAAGGAGGCTGCCTTTTCCAAAACCCCCTCCAGGTTATGACCTAGAAACAGCAGCGCCCTCTAGGCCCTCAAATCCAA
AGTCACCTGCACCCTCCTTTCCACTGGCCCCCAGGTACGGGCACAGACCCTTCTTTGTGTTCATGGCTAGGAACATCTTCCAATGGGGAT
TTTAAAAAGAACTTTAAACATGCACACAGGGTGCTCTGGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCA
GAGTATTTGGGCGAATGCAGTTTTTCCTCCTACTCACCATCCT -/C GTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCC
CAATCATCTTCATCATCTCCATCTCTGACACCAGATCAGAAAGGTCTTTCTCTGTGGCATCATCTATGAACAGTAGGCATATTCACAAAT
CAGTTCATTTCCTCTAACTCATGGGCAGCTACTGTTAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAA
GATTTTCCAAATCATCTCCCTCATTTTATCGAGGAAGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGCTCACTGG
GGGGCCAATGGGGCCAAGAGTCAGGACGAGAGCAGGGGCTTCTGACACTAATGCCAATTCTTTCCTAGACCATGAGATAATCTCATCC-3
'

[Top]

RS ID: 67279414 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123276964

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144918 Link_out NP_001138390 Link_out 2 Not Applicable
frameshift NM_001144915 Link_out NP_001138387 Link_out 2 Not Applicable
frameshift NM_001144916 Link_out NP_001138388 Link_out 2 Not Applicable
frameshift NM_000141 Link_out NP_000132 Link_out 2 Not Applicable
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144919 Link_out Not Applicable Not Applicable Not Applicable
intron NM_022970 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144913 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTATACATTGGCTCAATGACTCACTAAAAATATGAGATCCCTTCAGGTTTTAAGGGTGAAATTTCCCTTGATCATAAATGTGAGTGT
GGGATCTCACTGTGTGTGAATTTCCAAGGCAGTTTTCTTATCCCTGAGGGATCATTTTTAACATTTTTTATATCTTTATGCAAGGATAAA
AGGGGCCATTTCTGATAACAGAAGCTGTGTTAATTTTATAGCAGTCAACCAAGAAAAGGGAAAAAAACCCAGAGAGAAAGAACAGTATAT
ACCTGGCAGAACTGTCAACCATGCAGAGTGAAAGGATATCCCAATAGAATTACCCGCCAAGCACGTATATTCCCCAGCGTCCTCAAAAGT
TACATTCCGAATATAGAGAACCTCAATCTCTTTGTCCGTGGTG -/T TAACACCGGCGGCCTAGAAAACAAGGGAAGCAAAAGAAAAGG
CTAGACGACACAGGAATGATTGTGGAGGGGGCTGTGGAACCACAAGGCGTCGCACCGGGGGCTTCAGGGGGTGCTGGCCACTGGGAGATT
CCGACTGCAGCCCATCCACAAAGCCCACAACCGAGAGACACGGAGCAACACTGACCAGCTCACCTCCACAGGCCCGTCACCACACCGGCT
TCACCTCCTACACATGCACGCAATCAAACGCATGGAAAAAATCAACCCACAGAGGTCCGTTCTCTTGGCCTGTGCTTTGGTTTGCATTTA
GGGGTGGTTTTCCAAAAGTATGGTGCCCAGAAGGCCAAGCTGGTTCTGGTCCTGTTGGCTGCAGACTCCCACCAAGAGGAAAGGGTA-3'

[Top]

RS ID: 67257519 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123310941

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144918 Link_out NP_001138390 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144919 Link_out NP_001138391 Link_out 3 M [Met] / I [Ile]
frameshift NM_022970 Link_out NP_075259 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144913 Link_out NP_001138385 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144914 Link_out NP_001138386 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144915 Link_out NP_001138387 Link_out 3 M [Met] / I [Ile]
frameshift NM_001144916 Link_out NP_001138388 Link_out 3 M [Met] / I [Ile]
frameshift NM_000141 Link_out NP_000132 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGACAACACGGTGAAACCCCGTCTCTGCTACAGATACAAAAAATTAGCGAGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGG
GAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGTTGCAGTGAACCGAGATCGCACCACGGCACTCCAGCCTGGGCGACAGA
GCGAGACTCCATCGCAAAAAAAAAATGTAAATAAATAAATAAACAAAAATGTAAGAAATGTGATGTTCTGAAAGCTTAATTCTACCTTGT
AGCCTCCAATGCGATGCTCCTGCTTAAACTCCTTCCCGTTTTTCAGCCACCGCATGGTTGGCATTGGGTTCCCCCCGGCTGGGCAGCGAA
ACTTGACAGTGTTGGCCGCAGGCACAGCATGGAGCCGCTTTTC -/T CATCTTTTCTGTGTTGGTCCAGTATGGTGCTCCTGTTTTGGA
AAACAGTATTAGAATGTATACTGATGGACAGCTTCCCCTCCATGAGTAAACTCCAAACAGGTAAGATCATTTCGCTTTGCATGTAAATGC
TAGGCTATTTTTTAAATCTTTGGGTAATATTTACATTTGGAAAATATTTTCAGAAGTCTAATCCAGCTGGCTGAGCAGAAGGTCCCAGAG
AGGGATGGTTCATGTCTACCAACAGGAAGAAAAAAAAAAAAGTGTTTGAGGCCCCTTCTCTCTCTTGTTCTTGATGCCAGAAAATAATTT
CATGCCAAATCATGTTTTAAAATGCTATTTTATAAACATATGAACAACATATACAACTGCGACAGCTCAGTCCTCCAAAAATAGATCA-3
'

[Top]

RS ID: 66787629 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123310836

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 1 Not Applicable
frameshift NM_001144918 Link_out NP_001138390 Link_out 1 Not Applicable
frameshift NM_001144919 Link_out NP_001138391 Link_out 1 Not Applicable
frameshift NM_022970 Link_out NP_075259 Link_out 1 Not Applicable
frameshift NM_001144913 Link_out NP_001138385 Link_out 1 Not Applicable
frameshift NM_001144914 Link_out NP_001138386 Link_out 1 Not Applicable
frameshift NM_001144915 Link_out NP_001138387 Link_out 1 Not Applicable
frameshift NM_000141 Link_out NP_000132 Link_out 1 Not Applicable
frameshift NM_001144916 Link_out NP_001138388 Link_out 1 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATAAACAAAAATGTAGGGCTGGGCATCGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTC
AGGAGATCAAGACCATCCTGGACAACACGGTGAAACCCCGTCTCTGCTACAGATACAAAAAATTAGCGAGGCATGGTGGCACACACCTGT
AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGTTGCAGTGAACCGAGATCGCACCACGGCACTC
CAGCCTGGGCGACAGAGCGAGACTCCATCGCAAAAAAAAAATGTAAATAAATAAATAAACAAAAATGTAAGAAATGTGATGTTCTGAAAG
CTTAATTCTACCTTGTAGCCTCCAATGCGATGCTCCTGCTTAA -/A CTCCTTCCCGTTTTTCAGCCACCGCATGGTTGGCATTGGGTT
CCCCCCGGCTGGGCAGCGAAACTTGACAGTGTTGGCCGCAGGCACAGCATGGAGCCGCTTTTCCATCTTTTCTGTGTTGGTCCAGTATGG
TGCTCCTGTTTTGGAAAACAGTATTAGAATGTATACTGATGGACAGCTTCCCCTCCATGAGTAAACTCCAAACAGGTAAGATCATTTCGC
TTTGCATGTAAATGCTAGGCTATTTTTTAAATCTTTGGGTAATATTTACATTTGGAAAATATTTTCAGAAGTCTAATCCAGCTGGCTGAG
CAGAAGGTCCCAGAGAGGGATGGTTCATGTCTACCAACAGGAAGAAAAAAAAAAAAGTGTTTGAGGCCCCTTCTCTCTCTTGTTCTT-3'

[Top]

RS ID: 66786077 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123324061

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 1 Not Applicable
frameshift NM_001144919 Link_out NP_001138391 Link_out 1 Not Applicable
frameshift NM_022970 Link_out NP_075259 Link_out 1 Not Applicable
frameshift NM_001144913 Link_out NP_001138385 Link_out 1 Not Applicable
frameshift NM_001144914 Link_out NP_001138386 Link_out 1 Not Applicable
frameshift NM_001144915 Link_out NP_001138387 Link_out 1 Not Applicable
frameshift NM_000141 Link_out NP_000132 Link_out 1 Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGCACAATCACTGATTACAAGGAAAACCAAGATGTTACATGGTTCTACTATTCTTATGTCTCTGAATAGGGAGAAGTCAAAGGGA
AAAGGGAAAATCAAGGAAAGAAAAGTAGTAACTGCTTTGAAAAACGAATGACCAGTGACACGAGAAGAAAGGACAAACGATAGAGAAGGC
TGTGCAGCAACACTGGTTTATTCTCAGGTTTGAAAGTCAGGAAAGTAGACACAGCGGGGAAAGGCAAGGGCCGCGGGACACAGCATGGCG
CAGAAGAGTCGACAAGAAGACAGGTGACAGGCAGAACTTCCCTCCATGCTCCTCTCTCGGGGACCATCGGAGCCGGGCAGTTACTTACTC
TTGTTGTTACTGTTCTCACTGACAAAATCTTCCGCACCATCGG -/T GTCATCCTCATCATCTCCGGATGAGATGGCATCTGTATGCAA
AAGAACATATTCCATGGATGTGTTTTTTGCAAAGCAAAAAGGTTGCAATTATCTACAACTGAGACCTTCTCCATAGCAAAGTCAACAACC
CAGGAACCCTCGCAAAGAGCCTGGGATTGTTTTCAGTTAAGATAGTTTTAATGGCTTAAATTTTCCCTCCATGATGACAGTTGGTCTATG
TTATGATTCTCAATGTTTTCTGCTTTCACGCTATTTAAACAGGCTATAAAATTGGATATATGAGAACTGGATTTCAAGCTTCAAACAGTA
TTCAAGCCCCTGACAAATTTACCAATTGTGTAGCACCCAAAGACTCTTTTTCCAACATTAACCTTTCAGTATGCGGGGTCTCCTTGA-3'

[Top]

RS ID: 66528422 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123310910

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 2 Not Applicable
frameshift NM_001144918 Link_out NP_001138390 Link_out 2 Not Applicable
frameshift NM_001144919 Link_out NP_001138391 Link_out 2 Not Applicable
frameshift NM_022970 Link_out NP_075259 Link_out 2 Not Applicable
frameshift NM_001144913 Link_out NP_001138385 Link_out 2 Not Applicable
frameshift NM_001144914 Link_out NP_001138386 Link_out 2 Not Applicable
frameshift NM_001144915 Link_out NP_001138387 Link_out 2 Not Applicable
frameshift NM_000141 Link_out NP_000132 Link_out 2 Not Applicable
frameshift NM_001144916 Link_out NP_001138388 Link_out 2 Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATCACGAGGTCAGGAGATCAAGACCATCCTGGACAACACGGTGAAACCCCGTCTCTGCTACAGATACAAAAAATTAGCGAGGCAT
GGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGATGGAGGTTGCAGTGAACCGAGA
TCGCACCACGGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCGCAAAAAAAAAATGTAAATAAATAAATAAACAAAAATGTAAGAAA
TGTGATGTTCTGAAAGCTTAATTCTACCTTGTAGCCTCCAATGCGATGCTCCTGCTTAAACTCCTTCCCGTTTTTCAGCCACCGCATGGT
TGGCATTGGGTTCCCCCCGGCTGGGCAGCGAAACTTGACAGTG -/T TGGCCGCAGGCACAGCATGGAGCCGCTTTTCCATCTTTTCTG
TGTTGGTCCAGTATGGTGCTCCTGTTTTGGAAAACAGTATTAGAATGTATACTGATGGACAGCTTCCCCTCCATGAGTAAACTCCAAACA
GGTAAGATCATTTCGCTTTGCATGTAAATGCTAGGCTATTTTTTAAATCTTTGGGTAATATTTACATTTGGAAAATATTTTCAGAAGTCT
AATCCAGCTGGCTGAGCAGAAGGTCCCAGAGAGGGATGGTTCATGTCTACCAACAGGAAGAAAAAAAAAAAAGTGTTTGAGGCCCCTTCT
CTCTCTTGTTCTTGATGCCAGAAAATAATTTCATGCCAAATCATGTTTTAAAATGCTATTTTATAAACATATGAACAACATATACAA-3'

[Top]

RS ID: 66499770 Link_out

Alleles: -/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123310950

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001144917 Link_out NP_001138389 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144918 Link_out NP_001138390 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144919 Link_out NP_001138391 Link_out 3 T [Thr] / T [Thr]
frameshift NM_022970 Link_out NP_075259 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144913 Link_out NP_001138385 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144914 Link_out NP_001138386 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144915 Link_out NP_001138387 Link_out 3 T [Thr] / T [Thr]
frameshift NM_001144916 Link_out NP_001138388 Link_out 3 T [Thr] / T [Thr]
frameshift NM_000141 Link_out NP_000132 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGAAACCCCGTCTCTGCTACAGATACAAAAAATTAGCGAGGCATGGTGGCACACACCTGTAGTCCCAGCTACTCGGGAGGCTGAG
GCAGGAGAATCGCTTGAACCTGGGAGATGGAGGTTGCAGTGAACCGAGATCGCACCACGGCACTCCAGCCTGGGCGACAGAGCGAGACTC
CATCGCAAAAAAAAAATGTAAATAAATAAATAAACAAAAATGTAAGAAATGTGATGTTCTGAAAGCTTAATTCTACCTTGTAGCCTCCAA
TGCGATGCTCCTGCTTAAACTCCTTCCCGTTTTTCAGCCACCGCATGGTTGGCATTGGGTTCCCCCCGGCTGGGCAGCGAAACTTGACAG
TGTTGGCCGCAGGCACAGCATGGAGCCGCTTTTCCATCTTTTC -/T TGTGTTGGTCCAGTATGGTGCTCCTGTTTTGGAAAACAGTAT
TAGAATGTATACTGATGGACAGCTTCCCCTCCATGAGTAAACTCCAAACAGGTAAGATCATTTCGCTTTGCATGTAAATGCTAGGCTATT
TTTTAAATCTTTGGGTAATATTTACATTTGGAAAATATTTTCAGAAGTCTAATCCAGCTGGCTGAGCAGAAGGTCCCAGAGAGGGATGGT
TCATGTCTACCAACAGGAAGAAAAAAAAAAAAGTGTTTGAGGCCCCTTCTCTCTCTTGTTCTTGATGCCAGAAAATAATTTCATGCCAAA
TCATGTTTTAAAATGCTATTTTATAAACATATGAACAACATATACAACTGCGACAGCTCAGTCCTCCAAAAATAGATCATTTTGGATT-3
'

[Top]

RS ID: 61731218 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123246924

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTCTGATGAGTGTATACTCTATCAAACAGGGCTTCTGGAGCCATCCACTT C/G ACTGGAAGCCGCCCCTGCAAATGTAGAGGAAA
ATGCAAAAACTAAATATA-3'

[Top]

RS ID: 56335660 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123256121

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTTTAGTTGGATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTA
GGTGCATGACACCAAGTCCTTGAAGGTCATCTG C/T TCCTCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCC
GGGCTCGGAGGTATTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTT-3'

[Top]

RS ID: 56226109 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123325158

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144919 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144917 Link_out NP_001138389 Link_out 2 S [Ser] / L [Leu]
missense NM_022970 Link_out NP_075259 Link_out 2 S [Ser] / L [Leu]
missense NM_001144913 Link_out NP_001138385 Link_out 2 S [Ser] / L [Leu]
missense NM_001144914 Link_out NP_001138386 Link_out 2 S [Ser] / L [Leu]
missense NM_000141 Link_out NP_000132 Link_out 2 S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGTGCACAAGAATTCTATCATTCTTAATGATCGGCCTTTCTGGTGCACCAGGTCCCAAAGAAGAATTTCAAAAACTATGAAGCTGT
ATGCCTGGCATCCAATTACAATTAGAGATCTCACTACCTTTTCACTTGGCCAAAAAAATGTAATGGCTACAGAGAAGAGAGAGCATAGTG
CTGGCGGGCCAACTCACCTGTGACATTCACCATGAAGTACCAAGTTTCACTGTCTACAGTCCTACTGGCAGTACAAGCATAGAGGCCGGA
GTCTCTAGGCGTGGCGCCCTTTATCTGCAAGTACTCCCCAATAAGCACTGTCCTATTGTTGGGCCCCAAGTGCACCCCATCCTTAGTCCA
ACTGATCACGGCGGCATCTTTCAACAGGCAGCGCACCTCTAGC A/G ACTCCCCTGGCGCAGCCACGTACACTTCTGGTTGAGAGATTT
GGTATTTGGTTGGTGGCTCTGCAGAAAGGTGGGAGAGAGAAGACGGAGACAGATGGGAAGGAGGGAGAGGAGAGAACGTCCAACAAAGGT
CAGTGGAGGCCTGCTTATTCCCAGGAGAAGCTGTTCTTGCTCTGCAAATGGCCCCAGCAGGCATCCACCTCTCCCCAAGCCCCAGGAAGT
CAGGAAGTATCTGGAAGAGCAACCAGAGGATACCCCCAGAAAATCTGTCCTGACTTAGTTTCCACATCCTATGGGGCTTTAGAAACAAAC
CAAACCATAGCATGGAAGAATATTCCACAAGAAAATGTTTAAATTGATTGCCAAAGCGTGCTTGCACTGTAATACCTGCAAAAATCTG-3
'

[Top]

RS ID: 55977237 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123310872

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 1 M [Met] / V [Val]
missense NM_001144918 Link_out NP_001138390 Link_out 1 M [Met] / V [Val]
missense NM_001144919 Link_out NP_001138391 Link_out 1 M [Met] / V [Val]
missense NM_022970 Link_out NP_075259 Link_out 1 M [Met] / V [Val]
missense NM_001144913 Link_out NP_001138385 Link_out 1 M [Met] / V [Val]
missense NM_001144914 Link_out NP_001138386 Link_out 1 M [Met] / V [Val]
missense NM_001144915 Link_out NP_001138387 Link_out 1 M [Met] / V [Val]
missense NM_000141 Link_out NP_000132 Link_out 1 M [Met] / V [Val]
missense NM_001144916 Link_out NP_001138388 Link_out 1 M [Met] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATAAATAAACAAAAATGTAAGAAATGTGATGTTCTGAAAGCTTAATTCTACCTTGTAGCCTCCAATGCGATGCTCCTGCTTAAACT
CCTTCCCGTTTTTCAGCCACCGCATGGTTGGCA C/T TGGGTTCCCCCCGGCTGGGCAGCGAAACTTGACAGTGTTGGCCGCAGGCACA
GCATGGAGCCGCTTTTCCATCTTTTCTGTGTTGGTCCAGTATGGTGCTCCTGTTTTGGAAAACAGTAT-3'

[Top]

RS ID: 55806379 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123325040

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 G [Gly] / G [Gly]
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144919 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGTATGCCTGGCATCCAATTACAATTAGAGATCTCACTACCTTTTCACTTGGCCAAAAAAATGTAATGGCTACAGAGAAGAGAGA
GCATAGTGCTGGCGGGCCAACTCACCTGTGACATTCACCATGAAGTACCAAGTTTCACTGTCTACAGTCCTACTGGCAGTACAAGCATAG
AGGCCGGAGTCTCTAGGCGTGGC A/G CCCTTTATCTGCAAGTACTCCCCAATAAGCACTGTCCTATTGTTGGGCCCCAAGTGCACCCC
ATCCTTAGTCCAACTGATCACGGCGGCATCTTTCAACAGGCAGCGCACCTCTAGCGACTCCCCTGGCGCAGCCACGTACACTTCTGGTTG
AGAGATTTGGTATTTGGTTGGTGGCTCTGCAGAAAGGTGGGAGAGAGA-3'

[Top]

RS ID: 55774317 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123243237

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144918 Link_out NP_001138390 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144919 Link_out NP_001138391 Link_out 2 R [Arg] / Q [Gln]
missense NM_022970 Link_out NP_075259 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144913 Link_out NP_001138385 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144914 Link_out NP_001138386 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144915 Link_out NP_001138387 Link_out 2 R [Arg] / Q [Gln]
missense NM_001144916 Link_out NP_001138388 Link_out 2 R [Arg] / Q [Gln]
missense NM_000141 Link_out NP_000132 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATGTCCCTCTGTCTTTGGTTTCATGAGTCAGAACTCACAAAATGAAGTTCTGAGAAAAATCATGATTTGAGAGGAACCCATAGTTGA
ACTATCTGACCCTATGGAAAAAGAATAAACAAGACCACAGACTCCAACCAACAGCCAACAGGGGAGTGTGTGTGTAAAACACTACGCATG
TCTCACAAGACAACCAAGGACAAGGGGCTTCTAGAAGGAAGTTCTTACCTCATTGGTTGTGAGAGTGAGAATT C/T GATCCAAGTCTT
CTACCAACTGCTTGAACGTTGGTCTCTGGGAGGGCACTGCATGCCAACAGTCCCTCATCATCATGTACCTGGGAAAAATGGATTTCCTTG
AATTAATTTCATATGCACTGGGTACGTGGTTATAGTCAGTTTTAATAGGCAATATGGGGACGTGGTGTAAATTAGGAAAATGCATCAGAA
CCTTCCAAGCAACTAGATTAGGGGGTCATGAATCACTTTCCCAAAAGCTTCCCTGCCA-3'

[Top]

RS ID: 55745510 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123279553

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 H [His] / H [His]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 H [His] / H [His]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 H [His] / H [His]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 H [His] / H [His]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 H [His] / H [His]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 H [His] / H [His]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 H [His] / H [His]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 H [His] / H [His]
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTCCTTAGAACACTCTCTGCTGGCTAGTCAAAAAAGAGAATCATCCTCTCTCAACTCCAACAGGAAATCAAAGAACCTGTGGCCAA
ACCCATGAAGGAGACCCCAGTTGTGGGTACCTTTAGATTCAGAAAGTCCTCACCTTGAGAACCTTGAGGTAGGGCAGCCCGTCGGGCCCG
TATTTACTGCCGTTCTTTTCCAC A/G TGCTTGATCCACTGGATGTGGGGCTGGGCATCACTGTAAACCTTGCAGACAAACTCTACGTC
TCCTCCGACCACTGTGGAGGCATTTGCCGGCAGTCCGGCTTGGAGGATGGGCCGGTGAGGCGATCGCTCTGGTGGAGAGAGGGAAGAAAG
GAGGAGTGGGGATGGGAGAATGAGAGACCAATAAATAAGCTGTGTTGT-3'

[Top]

RS ID: 55724054 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123256124

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 E [Glu] / E [Glu]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 E [Glu] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGGTTGTACAAGACATGCGAGGGCTTGATCTAGCAAATGAGCATGTCCAAATTGCCTGTTTTCTTTAAAGACATTTTTAGTTGG
ATTCCACCCAGCCAAGTAGAATGTGAAAGACTCACTTTTTGGGAAGCCAAGTACTCCATGCCTCTGGCCAGCTGGTAGGTGCATGACACC
AAGTCCTTGAAGGTCATCTGCTC C/T TCAGGAACACGGTTAATGTCATAGGAGTACTCCATCCCGGGTGGCCTCCGGGCTCGGAGGTA
TTCTCGGAGGTTGCCTTTAGAGGCATACTCAACTATGACATAGAGAGGCCCTGTTGAGGAAGAAGAGAAGCTCCCTAAAGAGAGAATCCA
GGGTCTCCCCTTGGGCAATTCAGCAAAACATTTTTAGTTATTACAACC-3'

[Top]

RS ID: 55689343 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123258119

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 2 D [Asp] / G [Gly]
missense NM_001144918 Link_out NP_001138390 Link_out 2 D [Asp] / G [Gly]
missense NM_001144919 Link_out NP_001138391 Link_out 2 D [Asp] / G [Gly]
missense NM_022970 Link_out NP_075259 Link_out 2 D [Asp] / G [Gly]
missense NM_001144913 Link_out NP_001138385 Link_out 2 D [Asp] / G [Gly]
missense NM_001144914 Link_out NP_001138386 Link_out 2 D [Asp] / G [Gly]
missense NM_001144915 Link_out NP_001138387 Link_out 2 D [Asp] / G [Gly]
missense NM_000141 Link_out NP_000132 Link_out 2 D [Asp] / G [Gly]
missense NM_001144916 Link_out NP_001138388 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGGAGCAGGATCTGGAAGCCCAGCCATTTCTAAAATGATTCAATCAAACTGCAGAGTATTTGGGCGAATGCAGTTTTTCCTCCTACT
CACCATCCTGTGTGCAGGCTCCAAGAAGATTTATGATATTCTTGTGTTTCCCAATCATCTTCATCATCTCCATCTCTGACACCAGATCAG
AAAGGTCTTTCTCTGTGGCATCA C/T CTATGAACAGTAGGCATATTCACAAATCAGTTCATTTCCTCTAACTCATGGGCAGCTACTGT
TAGTTGCCAAAGACTTAGTTGAAACAGCATGAAATTGAATTTCAGAATCAGAAAAGATTTTCCAAATCATCTCCCTCATTTTATCGAGGA
AGGGACAAAGGCCTACACAGGGAACTGCCTCACTCTGTGTCAAAGAGC-3'

[Top]

RS ID: 55637244 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123244914

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 N [Asn] / N [Asn]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 N [Asn] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTTCTCTCAGACAAGTAATGGTTGTCGGTGTCGCTATGTATCCCAGCTCTGGATTGAGCCCAGAGAGCTTCAGCCATTCTTCTTA
GAGCATGTTTAGGAAACCAGGGGCCTTCAAAAACGAGATACATCAGGAGAGGTATTACTGGTGTGGCAAGTCCACTGGGGCACCGGCAGG
AAAGACAACAGCCCTTACAGTTC A/G TTGGTGCAGTTGGCTGGCTTATCCATTCTGTGTCCTTCCTTCAGCAGCTTAAAAAGTTCCTC
CACGGGAATCCCTGGGTAGGGCGAGCCCCCTAAAGTGAAGATCTCCCACATTAACACCCCGAAGGACCAGCTGCAACAAAAGGAGAAAGC
ACGGCATTACTAACCCATCCACGTTGCCAAAACCTAAACACGCCCAGC-3'

[Top]

RS ID: 41294229 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123243224

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGCTTTTGGGAAAGTGATTCATGACCCCCTAATCTAGTTGCTTGGAAGGTTCTGATGCATTTTCCTAATTTACACCACGTCCCCAT
ATTGCCTATTAAAACTGACTATAACCACGTACCCAGTGCATATGAAATTAATTCAAGGAAATCCATTTTTCCCAGGTACATGATGATGAG
GGACTGTTGGCATGCAGTGCCCTCCCAGAGACCAACGTTCAAGCAGTTGGTAGAAGACTTGGATCGAATTCTCACTCT C/T ACAACCA
ATGAGGTAAGAACTTCCTTCTAGAAGCCCCTTGTCCTTGGTTGTCTTGTGAGACATGCGTAGTGTTTTACACACACACTCCCCTGTTGGC
TGTTGGTTGGAGTCTGTGGTCTTGTTTATTCTTTTTCCATAGGGTCAGATAGTTCAACTATGGGTTCCTCTCAAATCATGATTTTTCTCA
GAACTTCATTTTGTGAGTTCTGACTCATGAAACCAAAGACAGAGGGACATCCCCGAGGCTGCCTTCAG-3'

[Top]

RS ID: 35337478 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
10 123247550

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTACTGACCTCAAGTGATCCGCCCACCTTGACCTCCCAAAGTGCTGGTATTACAGGCATGAGCCACCGCACCCGGCCACACTGTAT
TTCTTATAGTATACCGCAACTGGTTTTTAACATCAGCTATATTTTCTATCTGCATTTTAAGAAATGAACATATTTCCTTTTTGTTCTGGC
GGTGTTTTGAAATTAGTTATTTCTCTTGCTTCTTTCTTGATTTCAGTGTATTCATCGAGATTTAGCAGCCAGAAATGTTTTGGTAACAGA
AAACAATGTGATGAAAATAGCAGACTTTGGACT C/T GCCAGAGATATCAACAATATAGACTATTACAAAAAGACCACCAATGTAAGTC
GATGGCAGTAACACAGTGGGCAGGGGCGGGGGTGAGGCTCAGAATGTTCCAGGAAGAAAGGCCGTCAATGTTGAGAGCTGGGTGGGATGG
CTGGGGACCCATTCCCCTGCCCCGATTCCCGTTCTTTTGACTTACTATTCACAAACTCTCAATATGCAAATTTAGCCTCTATTATGTCAA
TTTTAGTAAATGTGAAACACTTATATACAGAATAATCAGCAACCGCTAGGATTTTCTTATGGTTCTCA-3'

[Top]

RS ID: 7078073 Link_out

Alleles: C/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123263416

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 1 P [Pro] / A [Ala]
missense NM_001144918 Link_out NP_001138390 Link_out 1 P [Pro] / A [Ala]
missense NM_001144919 Link_out NP_001138391 Link_out 1 P [Pro] / A [Ala]
missense NM_022970 Link_out NP_075259 Link_out 1 P [Pro] / A [Ala]
missense NM_001144913 Link_out NP_001138385 Link_out 1 P [Pro] / A [Ala]
missense NM_001144914 Link_out NP_001138386 Link_out 1 P [Pro] / A [Ala]
missense NM_001144915 Link_out NP_001138387 Link_out 1 P [Pro] / A [Ala]
missense NM_000141 Link_out NP_000132 Link_out 1 P [Pro] / A [Ala]
missense NM_001144916 Link_out NP_001138388 Link_out 1 P [Pro] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTAAGGGTCATAAAAAGAAAATGTTAATCCAATATCCCCATTTATAGCTGAGTCTCCATCCTGGGACATGGCCAAGAGAAGTACTCA
CTTATCTCTTGGAAACTCCCATTTTGGGTCCTCTGGAAGTTCATACTCGGAGACCCCTGCCAGCATGGGGGTGTCTGCCGTTGAAGAGAG
GCGTGTTGTTATCCTCACCAGCG C/G GGTGTTGGAGTTCATGGAGGAGCTGGACTCAGCCGAAACCTGGATACAAAATGCAAAGACAC
AGATGTAATCCTGGCTCCATCTGAGAAGGCTGGAAGTCAGCCAGAGCCCAGCCAGAGTATCGAATCTTAGAAAGGAATGGGTTGGGGGCT
GGCAGAAGTCAGAAACCAAATTAGAAAACCACTGGAATCTAACTCCTC-3'

[Top]

RS ID: 4647921 Link_out

Alleles: C/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123279507

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144917 Link_out NP_001138389 Link_out 1 L [Leu] / F [Phe]
missense NM_001144918 Link_out NP_001138390 Link_out 1 L [Leu] / F [Phe]
missense NM_001144919 Link_out NP_001138391 Link_out 1 L [Leu] / F [Phe]
missense NM_022970 Link_out NP_075259 Link_out 1 L [Leu] / F [Phe]
missense NM_001144913 Link_out NP_001138385 Link_out 1 L [Leu] / F [Phe]
missense NM_001144915 Link_out NP_001138387 Link_out 1 L [Leu] / F [Phe]
missense NM_000141 Link_out NP_000132 Link_out 1 L [Leu] / F [Phe]
missense NM_001144916 Link_out NP_001138388 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCACGTGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTAC C/T TCAAGGTTCTCAAGGTGAGGACTTTCTGAATC
TAAAGGTACCCACAACTG-3'

[Top]

RS ID: 3750819 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
10 123353315

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 2 R [Arg] / P [Pro]
missense NM_001144918 Link_out NP_001138390 Link_out 2 R [Arg] / P [Pro]
missense NM_001144919 Link_out NP_001138391 Link_out 2 R [Arg] / P [Pro]
missense NM_022970 Link_out NP_075259 Link_out 2 R [Arg] / P [Pro]
missense NM_001144913 Link_out NP_001138385 Link_out 2 R [Arg] / P [Pro]
missense NM_001144914 Link_out NP_001138386 Link_out 2 R [Arg] / P [Pro]
missense NM_001144915 Link_out NP_001138387 Link_out 2 R [Arg] / P [Pro]
missense NM_000141 Link_out NP_000132 Link_out 2 R [Arg] / P [Pro]
missense NM_001144916 Link_out NP_001138388 Link_out 2 R [Arg] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCTCATCAGCTCTGCCTTGCCGGGAGCCAAGAGACCACGATCTGGTGCTCTTAGAAGCCCCATTTACAATGCAAGGGTAGCTGAT
TCTAAAACAGGCCTTAACAATCTGCCCCCCAGACAAATCCCAAAACAAACCTGAAAAGTGAAATTAAATGACTTACCTTCTGGCTCTAAT
GTGGTATCCTCAACTAAACTGAAGGAGGGCCGGGCCAGGGACAAGGTTGCCATGGTGACCACGACCAGGCAGATGAAA C/G GACCCCA
GCTGACCATGGTTACGGTACCAATCCCCGGTCCTCTTCCATATCTCCATGTGGACGTTAATCCCATCTGCACACTTCCTCTACGGGCATG
GACTACGCGCAATGCCTTCAGCCTGCGGTGGGCTCAGGAACCGAGGCGCTGCCGCTGCTGCTGCAGTCACTAAAGGAAAGAGATTGGCGA
GTCAGGGAATCTTCCCCAATGCCAAATCACTCCAGCCCAAGTGGGATAAAACCATTTTTCAGCCTCTC-3'

[Top]

RS ID: 3135755 Link_out

Alleles: G/T

Validation:

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

Details:

Chromosome Reference Position
10 123279673

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 P [Pro] / P [Pro]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 P [Pro] / P [Pro]
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGCTTGTGGTTGAGGTGAGTTTTTGAGATTATCTCAAATAGGATAAGTGAAGAAGCTTCCCTCCCCTACCATTTGTCACTTAGATT
GTCAGAGTAGAATTTCTTCCCGTATTCATCAGGTGGCAGTGGACAGCCAATAACCTGGGATGTAATAAGTTCTTTTCTCAATTTTCTAAG
TAAGTGTTCTTTTTACAAGGGTCGCGCTCCGGCAGTCTCCTTTGAAGTCGTTTCTGTTATTCATGGGGCCACAGTGTTATTTCAAAGGTG
TCAGCCAGCAGGCTTGAGGCTTTTCTGGCATGAGGTCACTGACAGCCCTCTGGACAACACAGCTTATTTATTGGTCTCTCATTCTCCCAT
CCCCACTCCTCCTTTCTTCCCTCTCTCCACCAGAGCGATCGCC G/T CACCGGCCCATCCTCCAAGCCGGACTGCCGGCAAATGCCTCC
ACAGTGGTCGGAGGAGACGTAGAGTTTGTCTGCAAGGTTTACAGTGATGCCCAGCCCCACATCCAGTGGATCAAGCACGTGGAAAAGAAC
GGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGGTGAGGACTTTCTGAATCTAAAGGTACCCACAACTGGGGTCT
CCTTCATGGGTTTGGCCACAGGTTCTTTGATTTCCTGTTGGAGTTGAGAGAGGATGATTCTCTTTTTTGACTAGCCAGCAGAGAGTGTTC
TAAGGAATTAACAGATCATTACACTTGCTAGTAGAATTTCAGAAGGGAACTATGGAGTAGGGGAAGAACTACTAAACTTGGGGAAGAA-3
'

[Top]

RS ID: 1143402 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278302

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 L [Leu] / L [Leu]
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGGATAAATAGTTCCAATGCAG
AAGTGCTGGCTCT A/G TTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACCAG
TCTGCCTGGCTCACTGTCCTGCCAAAAC-3'

[Top]

RS ID: 1143401 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
10 123278334

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 1 I [Ile] / L [Leu]
missense NM_022970 Link_out NP_075259 Link_out 1 I [Ile] / L [Leu]
missense NM_001144913 Link_out NP_001138385 Link_out 1 I [Ile] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCTTCTCTCCACCAGGTCTTTCCGTTGTCCACCACTGGACTGATTTTGTTCTTTAAAATCCGCAGCCCTTTAATGCCGCTGTTTAG
ACGTAATGGAGTTTGTTTTCTTGCGGTGTGTTGGTGGTGGGACCATAGACAATGCTAAGACCTTCCTGGTTGGCCGTTATATTGTTCTCC
TGTGTCTGTTCTAGCACTCGGGG A/G TAAATAGTTCCAATGCAGAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAA
TATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACCAGTCTGCCTGGCTCACTGTCCTGCCAAAACAGCAAGGTAACAATGCTTTC
ATTTTTGTCTTTTTTTAAAAAGAAAGCTGGATATAGAAGCTGAAAAGA-3'

[Top]

RS ID: 1129324 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278336

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 G [Gly] / V [Val]
missense NM_022970 Link_out NP_075259 Link_out 2 G [Gly] / V [Val]
missense NM_001144913 Link_out NP_001138385 Link_out 2 G [Gly] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGGCCGCCGG G/T GATAAATACCAATGCAAAGTGCTGGCTCTGTT
CAATGTGACCGAGGCGGA-3'

[Top]

RS ID: 1129323 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278321

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 N [Asn] / T [Thr]
missense NM_022970 Link_out NP_075259 Link_out 2 N [Asn] / T [Thr]
missense NM_001144913 Link_out NP_001138385 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGG
ATAAATAGTTCCA A/C TGCAGAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTA
TATAGGGCAGGCCAACCAGTCTGCCTGG-3'

[Top]

RS ID: 1129322 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278320

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 3 N [Asn] / K [Lys]
missense NM_022970 Link_out NP_075259 Link_out 3 N [Asn] / K [Lys]
missense NM_001144913 Link_out NP_001138385 Link_out 3 N [Asn] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCAGTGGATCAAGCACGTGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGGA
TAAATAGTTCCAA G/T GCAGAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTAT
ATAGGGCAGGCCAACCAGTCTGCCTGGC-3'

[Top]

RS ID: 1129321 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278312

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 V [Val] / E [Glu]
missense NM_022970 Link_out NP_075259 Link_out 2 V [Val] / E [Glu]
missense NM_001144913 Link_out NP_001138385 Link_out 2 V [Val] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCAAGCACGTGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGGATAAATAGT
TCCAATGCAGAAG A/T GCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCA
GGCCAACCAGTCTGCCTGGCTCACTGTC-3'

[Top]

RS ID: 1129320 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278310

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 1 L [Leu] / M [Met]
missense NM_022970 Link_out NP_075259 Link_out 1 L [Leu] / M [Met]
missense NM_001144913 Link_out NP_001138385 Link_out 1 L [Leu] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAGCACGTGGAAAAGAACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGGATAAATAGTTC
CAATGCAGAAGTG A/C TGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGG
CCAACCAGTCTGCCTGGCTCACTGTCCT-3'

[Top]

RS ID: 1129318 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278293

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 V [Val] / V [Val]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACGGCAGTAAATACGGGCCCGACGGGCTGCCCTACCTCAAGGTTCTCAAGCACTCGGGGATAAATAGTTCCAATGCAGAAGTGCTGG
CTCTGTTCAATGT A/G ACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACCAGTCTGCCTGG
CTCACTGTCCTGCCAAAACAGCAAGCGC-3'

[Top]

RS ID: 1129316 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278220

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 1 L [Leu] / F [Phe]
missense NM_022970 Link_out NP_075259 Link_out 1 L [Leu] / F [Phe]
missense NM_001144913 Link_out NP_001138385 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGCAGAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAA
CCAGTCTGCCTGG C/T TCACTGTCCTGCCAAAACAGCAAGCGCCTGGAAGAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGA
TAGCCATTTACTGCATAGGGGTCTTCTT-3'

[Top]

RS ID: 1129314 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278218

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 L [Leu] / L [Leu]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACC
AGTCTGCCTGGCT C/G ACTGTCCTGCCAAAACAGCAAGCGCCTGGAAGAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGATA
GCCATTTACTGCATAGGGGTCTTCTTAA-3'

[Top]

RS ID: 1129313 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278215

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 T [Thr] / T [Thr]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACCAGT
CTGCCTGGCTCAC A/T GTCCTGCCAAAACAGCAAGCGCCTGGAAGAGAAAAGGAGATTACAGCTTCCCCAGACTACCTGGAGATAGCC
ATTTACTGCATAGGGGTCTTCTTAATCG-3'

[Top]

RS ID: 1129312 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278212

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 V [Val] / V [Val]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGGTCTCCAATTATATAGGGCAGGCCAACCAGTCTGCCTGGCTCACTGT C/T CTGCCAAAACAGCAAGCGCCTGGAAGAGAAAA
GGAGATTACAGCTTCCCC-3'

[Top]

RS ID: 1065582 Link_out

Alleles: A/C

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278241

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 1 Q [Gln] / K [Lys]
missense NM_022970 Link_out NP_075259 Link_out 1 Q [Gln] / K [Lys]
missense NM_001144913 Link_out NP_001138385 Link_out 1 Q [Gln] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGG A/C AGGCCAACCAGTCTGCCTGGCTCACTGTCCTG
CCAAAACAGCAAGCGCCT-3'

[Top]

RS ID: 1065581 Link_out

Alleles: G/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278258

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 V [Val] / G [Gly]
missense NM_022970 Link_out NP_075259 Link_out 2 V [Val] / G [Gly]
missense NM_001144913 Link_out NP_001138385 Link_out 2 V [Val] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGG G/T CTCCAATTATATAGGGCAGGCCAACCAGTCTG
CCTGGCTCACTGTCCTGC-3'

[Top]

RS ID: 1047102 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
10 123325169

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 A [Ala] / A [Ala]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 A [Ala] / A [Ala]
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144919 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TACCACAATAACAGATTTTTGCAGGTATTACAGTGCAAGCACGCTTTGGCAATCAATTTAAACATTTTCTTGTGGAATATTCTTCCA
TGCTATGGTTTGGTTTGTTTCTAAAGCCCCATAGGATGTGGAAACTAAGTCAGGACAGATTTTCTGGGGGTATCCTCTGGTTGCTCTTCC
AGATACTTCCTGACTTCCTGGGGCTTGGGGAGAGGTGGATGCCTGCTGGGGCCATTTGCAGAGCAAGAACAGCTTCTCCTGGGAATAAGC
AGGCCTCCACTGACCTTTGTTGGACGTTCTCTCCTCTCCCTCCTTCCCATCTGTCTCCGTCTTCTCTCTCCCACCTTTCTGCAGAGCCAC
CAACCAAATACCAAATCTCTCAACCAGAAGTGTACGTGGCTGC A/G CCAGGGGAGTCGCTAGAGGTGCGCTGCCTGTTGAAAGATGCC
GCCGTGATCAGTTGGACTAAGGATGGGGTGCACTTGGGGCCCAACAATAGGACAGTGCTTATTGGGGAGTACTTGCAGATAAAGGGCGCC
ACGCCTAGAGACTCCGGCCTCTATGCTTGTACTGCCAGTAGGACTGTAGACAGTGAAACTTGGTACTTCATGGTGAATGTCACAGGTGAG
TTGGCCCGCCAGCACTATGCTCTCTCTTCTCTGTAGCCATTACATTTTTTTGGCCAAGTGAAAAGGTAGTGAGATCTCTAATTGTAATTG
GATGCCAGGCATACAGCTTCATAGTTTTTGAAATTCTTCTTTGGGACCTGGTGCACCAGAAAGGCCGATCATTAAGAATGATAGAATT-3
'

[Top]

RS ID: 1047101 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
10 123325034

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 T [Thr] / T [Thr]
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144919 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCCCACCTTTCTGCAGAGCCACCAACCAAATACCAAATCTCTCAACCAGAAGTGTACGTGGCTGCGCCAGGGGAGTCGCTAGAGGTG
CGCTGCCTGTTGAAAGATGCCGCCGTGATCAGTTGGACTAAGGATGGGGTGCACTTGGGGCCCAACAATAGGACAGTGCTTATTGGGGAG
TACTTGCAGATAAAGGGCGCCAC A/G CCTAGAGACTCCGGCCTCTATGCTTGTACTGCCAGTAGGACTGTAGACAGTGAAACTTGGTA
CTTCATGGTGAATGTCACAGGTGAGTTGGCCCGCCAGCACTATGCTCTCTCTTCTCTGTAGCCATTACATTTTTTTGGCCAAGTGAAAAG
GTAGTGAGATCTCTAATTGTAATTGGATGCCAGGCATACAGCTTCATA-3'

[Top]

RS ID: 1047100 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
10 123298158

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144917 Link_out NP_001138389 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144918 Link_out NP_001138390 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144914 Link_out NP_001138386 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_000141 Link_out NP_000132 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001144916 Link_out NP_001138388 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TACCAGGCTGGCTGGTGTTCAGGCTCCCTGGCCAGTTGGCCTCTCCTAGAGGAGCCCTCAAATCCATTATGGTAACAGACCCACGCT
GTACACTGCCGAATACTCCTGCAGATCTGAATATGTCAATATTTGCTTCACAGGTGTTCACCATGATGATGATGATGGTTTTCATTTCTC
ACGATTCTTAATGACAGTTATCAATTTAGAATTTAGGTGATTCTTCCATACCTTTCTTGCCTCCTTCAGCTTCTTTTTAAATCAAGAAAG
CACAGTACTTGGTATTCTGTGCTAGGATTGTTAAATAACCGCCTTTGCTTTGATCTTTTCAGGTACGAAACCAGCACTGGAGCCTCATTA
TGGAAAGTGTGGTCCCATCTGACAAGGGAAATTATACCTGTGT A/G GTGGAGAATGAATACGGGTCCATCAATCACACGTACCACCTG
GATGTTGTGGGTGAGTTTGCCTCTCCTCGTGTGGCGGCTGCATACCAGCCCATTCTTGCTTGACTCGTTTGAAAGCATGAACGTTAAGTC
CTGTTTCTCCCATAAGTTTCAGGAGAATTGGTTCATTCTTATTCTTTCTACTATCATTTTACAAGGCTGCTTCTGTCATCTGACAATATT
CTGTTTTCCAGGCAGCCAGGGTTTATGAGCTTTGCATGATCCTCATGGTTCCCAAGCGTCATCTGTGTAAAGTGGACGTGGTATGAAATG
TCTGACATTTTGGAAGCTGAGATTACTCTGAAAATGTTAATTGGGCAGGTGAAAAGGGTACAGATGTGCTGTAGCAGACCTTTGGTTT-3
'

[Top]

RS ID: 1047095 Link_out

Alleles: A/C

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278285

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 A [Ala] / E [Glu]
missense NM_022970 Link_out NP_075259 Link_out 2 A [Ala] / E [Glu]
missense NM_001144913 Link_out NP_001138385 Link_out 2 A [Ala] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGGGATAAATACCAATGCAAAGTGCTGGCTCTGTTCAATGTGACCGAGG A/C GGATGCTGGGGAATATATATGTAAGGTCTCCA
ATTATATAGGGCAGGCCA-3'

[Top]

RS ID: 1047090 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278281

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 D [Asp] / D [Asp]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 D [Asp] / D [Asp]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATAAATACCAATGCAAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGA C/T GCTGGGGAATATATATGTAAGGTCTCCAATTA
TATAGGGCAGGCCAACCA-3'

[Top]

RS ID: 1047088 Link_out

Alleles: C/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278267

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 I [Ile] / T [Thr]
missense NM_022970 Link_out NP_075259 Link_out 2 I [Ile] / T [Thr]
missense NM_001144913 Link_out NP_001138385 Link_out 2 I [Ile] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATA C/T ATGTAAGGTCTCCAATTATATAGGGCAGGCCA
ACCAGTCTGCCTGGCTCA-3'

[Top]

RS ID: 1047087 Link_out

Alleles: A/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278266

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 3 I [Ile] / M [Met]
missense NM_022970 Link_out NP_075259 Link_out 3 I [Ile] / M [Met]
missense NM_001144913 Link_out NP_001138385 Link_out 3 I [Ile] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAGTGCTGGCTCTGTTCAATGTGACCGAGGCGGATGCTGGGGAATATAT A/G TGTAAGGTCTCCAATTATATAGGGCAGGCCAA
CCAGTCTGCCTGGCTCAC-3'

[Top]

RS ID: 1047083 Link_out

Alleles: A/C

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278249

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 Y [Tyr] / S [Ser]
missense NM_022970 Link_out NP_075259 Link_out 2 Y [Tyr] / S [Ser]
missense NM_001144913 Link_out NP_001138385 Link_out 2 Y [Tyr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAATGTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATT A/C TATAGGGCAGGCCAACCAGTCTGCCTGGCTCA
CTGTCCTGCCAAAACAGC-3'

[Top]

RS ID: 1047082 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278245

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144919 Link_out NP_001138391 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_022970 Link_out NP_075259 Link_out 3 I [Ile] / I [Ile]
coding-synonymous NM_001144913 Link_out NP_001138385 Link_out 3 I [Ile] / I [Ile]
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGACCGAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATAT A/T GGGCAGGCCAACCAGTCTGCCTGGCTCACTGT
CCTGCCAAAACAGCAAGC-3'

[Top]

RS ID: 1047078 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278239

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 3 Q [Gln] / H [His]
missense NM_022970 Link_out NP_075259 Link_out 3 Q [Gln] / H [His]
missense NM_001144913 Link_out NP_001138385 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAGGCGGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCA G/T GCCAACCAGTCTGCCTGGCTCACTGTCCTGCC
AAAACAGCAAGCGCCTGG-3'

[Top]

RS ID: 1047077 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123278234

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 2 N [Asn] / I [Ile]
missense NM_022970 Link_out NP_075259 Link_out 2 N [Asn] / I [Ile]
missense NM_001144913 Link_out NP_001138385 Link_out 2 N [Asn] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATGCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCA A/T CCAGTCTGCCTGGCTCACTGTCCTGCCAAAAC
AGCAAGCGCCTGGAAGAG-3'

[Top]

RS ID: 1047076 Link_out

Alleles: C/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
10 123278230

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144915 Link_out Not Applicable Not Applicable Not Applicable
intron NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
intron NM_000141 Link_out Not Applicable Not Applicable Not Applicable
missense NM_001144919 Link_out NP_001138391 Link_out 3 Q [Gln] / H [His]
missense NM_022970 Link_out NP_075259 Link_out 3 Q [Gln] / H [His]
missense NM_001144913 Link_out NP_001138385 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTGGGGAATATATATGTAAGGTCTCCAATTATATAGGGCAGGCCAACCA C/G TCTGCCTGGCTCACTGTCCTGCCAAAACAGCA
AGCGCCTGGAAGAGAAAA-3'

[Top]

RS ID: 1047058 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
10 123239113

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 3 V [Val] / V [Val]
utr-3 NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_022970 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_000141 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144916 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCAGTGGACTGCCACAAGCCACCATGTAACCCCTCTCACCTGCCGTGCGT A/T CTGGCTGTGGACCAGTAGGACTCAAGGTGGAC
GTGCGTTCTGCCTTCCTT-3'

[Top]

RS ID: 1047057 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
10 123239112

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001144915 Link_out NP_001138387 Link_out 1 L [Leu] / L [Leu]
utr-3 NM_001144917 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144918 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_022970 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144914 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_001144916 Link_out Not Applicable Not Applicable Not Applicable
utr-3 NM_000141 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTCGAACAGTATTCACCTAGTTACCCTGACACAAGAAGTTCTTGTTCTTCAGGAGATGATTCTGTTTTTTCTCCAGACCCCATGCC
TTACGAACCATGCCTTCCTCAGTATCCACACATAAACGGCAGTGTTAAAACATGAATGACTGTGTCTGCCTGTCCCCAAACAGGACAGCA
CTGGGAACCTAGCTACACTGAGCAGGGAGACCATGCCTCCCAGAGCTTGTTGTCTCCACTTGTATATATGGATCAGAGGAGTAAATAATT
GGAAAAGTAATCAGCATATGTGTAAAGATTTATACAGTTGAAAACTTGTAATCTTCCCCAGGAGGAGAAGAAGGTTTCTGGAGCAGTGGA
CTGCCACAAGCCACCATGTAACCCCTCTCACCTGCCGTGCGTA C/T TGGCTGTGGACCAGTAGGACTCAAGGTGGACGTGCGTTCTGC
CTTCCTTGTTAATTTTGTAATAATTGGAGAAGATTTATGTCAGCACACACTTACAGAGCACAAATGCAGTATATAGGTGCTGGATGTATG
TAAATATATTCAAATTATGTATAAATATATATTATATATTTACAAGGAGTTATTTTTTGTATTGATTTTAAATGGATGTCCCAATGCACC
TAGAAAATTGGTCTCTCTTTTTTTAATAGCTATTTGCTAAATGCTGTTCTTACACATAATTTCTTAATTTTCACCGAGCAGAGGTGGAAA
AATACTTTTGCTTTCAGGGAAAATGGTATAACGTTAATTTATTAATAAATTGGTAATATACAAAACAATTAATCATTTATAGTTTTTT-3
'

[Top]

RS ID: 755793 Link_out

Alleles: C/T

Validation:

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

Details:

Chromosome Reference Position
10 123310871

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001144917 Link_out NP_001138389 Link_out 2 M [Met] / R [Arg]
missense NM_001144918 Link_out NP_001138390 Link_out 2 M [Met] / R [Arg]
missense NM_001144919 Link_out NP_001138391 Link_out 2 M [Met] / R [Arg]
missense NM_022970 Link_out NP_075259 Link_out 2 M [Met] / R [Arg]
missense NM_001144913 Link_out NP_001138385 Link_out 2 M [Met] / R [Arg]
missense NM_001144914 Link_out NP_001138386 Link_out 2 M [Met] / R [Arg]
missense NM_001144915 Link_out NP_001138387 Link_out 2 M [Met] / R [Arg]
missense NM_000141 Link_out NP_000132 Link_out 2 M [Met] / R [Arg]
missense NM_001144916 Link_out NP_001138388 Link_out 2 M [Met] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTTAGACTTCTGAAAATATTTTCCAAATGTAAATATTACCCAAAGATTTAAAAAATAGCCTAGCATTTACATGCAAAGCGAAATGA
TCTTACCTGTTTGGAGTTTACTCATGGAGGGGAAGCTGTCCATCAGTATACATTCTAATACTGTTTTCCAAAACAGGAGCACCATACTGG
ACCAACACAGAAAAGATGGAAAAGCGGCTCCATGCTGTGCCTGCGGCCAACACTGTCAAGTTTCGCTGCCCAGCCGGGGGGAACCCAA C
/T GCCAACCATGCGGTGGCTGAAAAACGGGAAGGAGTTTAAGCAGGAGCATCGCATTGGAGGCTACAAGGTAGAATTAAGCTTTCAGAA
CATCACATTTCTTACATttttgtttatttatttatttacattttttttttgcgatggagtctcgctctgtcgcccaggctggagtgccgt
ggtgcgatctcggttcactgcaacctccacctcccaggttcaagcgattctcctgcctcagcctcccgagtagctgggactacaggtgtg
tgccaccatgcctcgctaattttttgtatctgtagcagagacggggtttcaccgtgttgtccaggatggtcttgatctcctgacctcgtg
atccgcctgcctcggccctccaaagtgttgggattacaggtgtgagccacgatgcccaaccCCTACATTTTGTGTTATTTTTTGGAGTGC
TCAAAATAGCAGGAATTAAGGGATACTTTAACAGGATCAATAATTGTCACAATGCCCATGTCAGGTTGATTTTAAAAAAAAATTACCCCC
GACTTGCG-3'