SNPJam Report for CYP3A4

Showing coding SNPs for CYP3A4 (Gene ID: 1576)

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: 78764657 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99377692

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 H [His] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAGAGTGAGCTCAAAAACACTCACCTTATGGTAGGACAAAATATTTCCCAAAAAAGGCAGAGGTGTGGGCCCTGGAATTCCAAGCTT
CTTAAAAAGTCCAT C/G TGAATGGGTTCCATATCTACAAAGTGAAACAGAAATCAAGTCACAGCGATTGTGACTTTATAGATATAGGG
GTTGATGAGTCATTGACTGAGGAACTGGAA-3'

[Top]

RS ID: 75726589 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 99364854

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTCTTTAAAAACATACAGGTAACTGCACTGATCATATGTATATTATCTAAAAAATTATGAAAAACTAAACATCCTCCTATAACTAC
CACCACATTTTACCTTTTGTGTATCTTCGAGGCGACTTTCTTTCATCCTTTTTACAGATTTTCTTAAAAAATTTGTAACTTCTCTTGGAA
ACACACAGATATTTAATACTTCA A/G GAATTGGGATGAGGAATGGAAAGACTGCTGTAGGAAAAACAAAACAAAAACAGAAAAAGAAA
TTCATTGTGAATGTGCAAAATTTACCTGGAGCAATTCTAGTTTTCTCTACCAACCAGAAGAGTAAAAGACATCAAGGTTCTCAACTGGAA
GCCATTCCTTCTATGACTTTTGCCCCTCTTTCAGGCCAGTGGCTGAGC-3'

[Top]

RS ID: 72552799 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99367788

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCATACCTCCTTGAGTTTTCCACTGGTGAAGGTTGGAGACAGCAATGAT C/T GTAATCTCTTCCATTCTTCATCCTCAGCTATA
GAGATGGCACTTTTCATA-3'

[Top]

RS ID: 72552798 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99367404

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 V [Val] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGACAGCTCAGAACCCCATGGCTGCGCTTCTACTTACTCTTTCAAGGTGA C/T AGGCTTGCCTGTCTCTGCTTCCCGCCTCAGAT
TTCTCACCAACACATCTC-3'

[Top]

RS ID: 72552797 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99359685

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GATGATTCCAAGCTATGCTCTTCACCGTGACCCAAAGTACTGGACAGAGC C/T TGAGAAGTTCCTCCCTGAAAGGTACAAGGCCC
CTGGGAAGGGAGCCCTCC-3'

[Top]

RS ID: 72552796 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99358521

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 R [Arg] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTACATATACACACCCTTTGGAAGTGGACCCAGAAACTGCATTGGCATGA A/G GTTTGCTCTCATGAACATGAAACTTGCTCTAA
TCAGAGTCCTTCAGAACT-3'

[Top]

RS ID: 72552795 Link_out

Alleles: -/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99358465

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_017460 Link_out NP_059488 Link_out 3 S [Ser] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTATTTTTATAGAAAATTGACTAACCTGTGTTTCTTTACAAGGTTTGAA -/G GGAGAAGTTCTGAAGGACTCTGATTAGAGCAA
GTTTCATGTTCATGAGAGC-3'

[Top]

RS ID: 71583803 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99358470

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 F [Phe] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGATTAAACAAGCATATTCTTTTTAAAAAATACAGACCACTCAGTTAAAAGAATTATTAATACAACATTATTTTTATAGAAAATTGA
CTAACCTGTGTTTCTTTACAAGGTTTGAAGGAG A/C AGTTCTGAAGGACTCTGATTAGAGCAAGTTTCATGTTCATGAGAGCAAACCT
CATGCCAATGCAGTTTCTGGGTCCACTTCCAAAGGGTGTGTATATGTAAGGATCTATGTTGTCCTTGT-3'

[Top]

RS ID: 71581998 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99359841

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 V [Val] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAGCTTGGAATCATCACCACCACCCCTTTGGGAATGAACATCCCATTGATCTCAACATCTTTTTTGCAGACCCTCTCAAGTCTCATA
GCAATTGGGAATAATCTGAGCGTTTCATTCACC A/T CCATGTCAAGATACTCCATCTGTAGCACAGTATCATAGGTGGGTGGTGCCTG
GAAAGAACGAAACAGATTTGGATAAATTGAGATTTTGAATTAACTTTTAACTCAGTCCATGCAGTACT-3'

[Top]

RS ID: 71581997 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99361583

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_017460 Link_out NP_059488 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTACCATCCACTCACCTTATTGGGTAAAACTGCATCAATTTCCTCCTGCAGTTTCTGCTGGACATCAGGGTGAGTGGCCAGTTCATA
CATAATGAAGGAGAGAACACTGCTCGTGGTTTC A/G TAGCCAGCAAAAATAAAGATAATTGATTGGGCCACGAGCTCCAGATCGGACA
GAGCTGAAAGGAGAGGAAAGACATTTTAGGTAAATCAGATCAATGTAGGGCATCACAGTTTAGATGAA-3'

[Top]

RS ID: 71581996 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99361591

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTCACCTTATTGGGTAAAACTGCATCAATTTCCTCCTGCAGTTTCTGCTGGACATCAGGGTGAGTGGCCAGTTCATACATAATGA
AGGAGAGAACACTGCTCGTGGTTTCATAGCCAG A/C AAAAATAAAGATAATTGATTGGGCCACGAGCTCCAGATCGGACAGAGCTGAA
AGGAGAGGAAAGACATTTTAGGTAAATCAGATCAATGTAGGGCATCACAGTTTAGATGAAGAGAAATC-3'

[Top]

RS ID: 71581992 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99366020

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_017460 Link_out NP_059488 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATGGTGATTTATATCTCAATAAAGCAGTTATTTTTAAGAGAGCAAGATAAATAAAAGGAAATAGTAGTCCACATACTTATTGAGAG
AAAGAATGGATCCAAAAAATCAAATCTTAAAAG C/T TTCTTGGTGTTTTCCACAAAGGGGTCTTGTGGATTGTTGAGAGAGTCGATGT
TCACTCCAAATGATGTGCTAGTGATCACATCCATGCTGTAGGCCCCAAAGACGCTGAGTGGAGAAAGA-3'

[Top]

RS ID: 67784355 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99359829

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CGGTGAAGAGCATAGCTTGGAATCATCACCACCACCCCTTTGGGAATGAACATCCCATTGATCTCAACATCTTTTTTGCAGACCCTC
TCAAGTCTCATAGCAATTGGGAATAATCTGAGC A/G TTTCATTCACCACCATGTCAAGATACTCCATCTGTAGCACAGTATCATAGGT
GGGTGGTGCCTGGAAAGAACGAAACAGATTTGGATAAATTGAGATTTTGAATTAACTTTTAACTCAGT-3'

[Top]

RS ID: 67666821 Link_out

Alleles: -/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99355806

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_017460 Link_out NP_059488 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TAATTTGAGGTCTCTGGTGTTCTCAGGCACAGATTTCTTGAAGAGCAAAGCAGAAGTCCTTAGGAAAATTCAGGCTCCACTTACGGT
GCCATCCCTTGACTCAACCTTTAGAACAACGGG -/T TTTTTCTGGTTGAAGAAGTCCTCCTAAGCTTAATTTCAGGGGGATCTGCAAC
AGTTAAACAAGCATATTGAGAAGCATTAAATAAACAAAAGTAGAAAGTATAGCATCAAAGTGAGTGAG-3'

[Top]

RS ID: 60535349 Link_out

Alleles: A/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99355836

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 S [Ser] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTATACTTTCTACTTTTGTTTATTTAATGCTTCTCAATATGCTTGTTTAACTGTTGCAGATCCCCCTGAAATTA A/T GCTTAGG
AGGACTTCTTCAACCAGAAAAACCCGTTGTTCTAAAGGTTGAGTCAAGGGATGGCACCGTAAGTGGAG-3'

[Top]

RS ID: 59418896 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99375666

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 Y [Tyr] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AAAATAATAATCAAATATTATTTTGTTTCTCCTCCCAGGGCTTTTGTATGTTTGACATGGAATGTCATAAAAAGT A/G TGGAAAA
GTGTGGGGGTGAGTATTCTGGAAACTTCCATTGGATAGACTTGTTTCTATGATGAGTTTACCCCACTG-3'

[Top]

RS ID: 57409622 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99367428

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 R [Arg] / W [Trp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGTGGTGTTGTGTTTTGTGCTTAGATGGTCCCTATCATTGCCCAGTATGGAGATGTGTTGGTGAGAAATCTGAGG C/T GGGAAGC
AGAGACAGGCAAGCCTGTCACCTTGAAAGAGTAAGTAGAAGCGCAGCCATGGGGTTCTGAGCTGTCAT-3'

[Top]

RS ID: 56324128 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99375702

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 G [Gly] / D [Asp]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATGGAAGTTTCCAGAATACTCACCCCCACACTTTTCCATACTTTTTATGACATTCCATGTCAAACATACAAAAG C/T CCTGGGA
GGAGAAACAAAATAATATTTGATTATTATTTTTAATGTACTTAACCCTGCCTCTAATTGGGATGAAAA-3'

[Top]

RS ID: 55951658 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99367825

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAAGGTTGGAGACAGCAATGATCGTAATCTCTTCCATTCTTCATCCTCAGCTATAGAGA C/T GGCACTTTTCATAAATCCCACT
GGACCAAAAGGCTAGAGTTCAAAGCAGAAACATTTTGT-3'

[Top]

RS ID: 55901263 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 99365994

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 P [Pro] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTCCAGAATAGGCAAATCCATAYAYGCAGAAAGTTGATTAGTGGTTGCATATGATGACAGGGTTTGTGACAGGGGGCTGATAGCTA
AAAATGTATGAGGTCTCTAGATTGACAAAAAAAGTTTTAAAGTTTAAAATGATGATGGTCACACATATCTTCAAATGTWCTACAAATCAC
TGAACTGTATATTTTAAGTGGKTGAATTACATGGTGATTTATYTCTCAATAAAGCAGTTATTTTTAAGAGAGKAAGATAAATWAAAGGAA
ATAGTAGTCCACATACTTATTNAGAGAAAGAAT C/G GATCCAAAAAATCAAATCTTAAAAGCTTCTTGGTGTTTTCCACAAAGGGGTC
TTGTGGATTGTTGAGAGAGTCYARGTTCACTCCAYATGATGWGCTASTGATCACATCCATGCTGTAGGCCCCAAAGACGCTGAGTGGAGA
AAGATGTGGAAAATTAAAATCAGCACCTTTTTACCATCCTTCCTCTATGCATGCAACAGGAAACCCACATGTCCAGTCAAGACAGACAAA
CAGCCACAGACTTTCAGATCTACTAGATCACCTTCTATCACACTCCATCAGAAGGTGTTATCAGGTGC-3'

[Top]

RS ID: 55785340 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99365983

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 S [Ser] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCAGTTATTTTTAAGAGAGCAAGATAAATAAAAGGAAATAGTAGTCCACATACTTATTG A/G GAGAAAGAATGGATCCAAAAAA
TCAAATCTTAAAAGCTTCTTGGTGTTTTCCACAAAGGG-3'

[Top]

RS ID: 34784390 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99364035

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_017460 Link_out NP_059488 Link_out 1 E [Glu] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGAAAGTCCCTATCAGGCCACCTGCTGAAGTGTAGCGTGTGTTAAATTTGAGCCATCTCACATGATAGCCAGATTTGTTTCAGGAAA
ACATCCTGCTTTCCAAGGATTTAGAAGGGTATGTTTTTCACTGGTGATTCAGGCAACATGCATCAGATTTCTGGTCTTCAAGGAGCCATA
TTCTCAGAAGGGAGATCAAGGACCACGCTTGTGATTTACTTCTGACTTCAGGAGCCACTTTCTGTCAGTGAAATTTCTCTTTTTGCTTCT
AGCACCGAGTGGATTTCCTTCAGCTGATGATTG -/A ACTCTCAGAATTCAAAAGAAACTGAGTCCCACAAAGGTAACCAGAGTGTTTC
TGAGGGCTACTTGTGGGGCACTCAGAGGGAAGGMCTTGTTCTGAAAATGTGCAGGAAGTATTCCAGGATGATGAGAATTTCTGCCACATA
GCAGAACGACACNNGTTTGAATGTTATAAGTGGTAGTTGGAGGCACTTTCTAGAGGCATGCARGCATAGATAGCCATGTTSTAASAGTAA
AGGGCAACCCTAAGCAAACCTGGCATGCTAGAAAGTCAGTCTGYGGTCTGTGGATCACCTACATCAGAT-3'

[Top]

RS ID: 28371761 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99355843

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_017460 Link_out NP_059488 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTTTGTTTATTTAATGCTTCTCAATATGCTTGTTTAACTGTTGCAGATCCCCCT A/G AAATTAAGCTTAGGAGGACTTCTTCAA
CCAGAAAAACCCGTTGTTCTAAAGGTTG-3'

[Top]

RS ID: 28371759 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 99361626

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTCTTTTCCCTTAGGGATTTGAGGGCTTCACTTAGATTTCTCTTCATCTAAACTGTGATGCCCTACATTGATCTGATTTACCTAAA
ATGTCTTTCCTCTCCTTTCAGCTCTGTCCGATC C/T GGAGCTCGTGGCCCAATCAATTATCTTTATTTTTGCTGGCTATGAAACCACG
AGCAGTGTTCTCTCCTTCATTATGTATGAACTGGCCACTCACCCTGATGTCCAGCAGAAACTGCAGGA-3'

[Top]

RS ID: 12721634 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99381661

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 L [Leu] / P [Pro]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCAGCCCTGCCTCCTTCTCTAGCATATAAACAATCCVACAGCCTCACTGAATCACTGCTGTGCAGGGCAGGAAAGCTCCATGCACAT
AGCCCAGMAAAGAGCAACACAGAGCTGAAAGGAAGWCTCAGAGSAGAGAGATAAGTAAGGAAAGTAGTGATGGCTCTCATCCCAGACTTG
GCCATGGAAACCTGGCTTCTCC C/T GGCTGTCAGCCTGGTGCTCCTCTATCTGTGAGTAACTGTCCAGGCTCCTCTTCTCTGTTTCCT
TGGACTTGGGGTGCTAATCAGGCCTCTCTTTCCCTTRTCTGTTTTGAAGATCAAAAAAGATGTTCAGGCCGGGCGTGGTGGCTTACACYT
GTAATCCCAGCACTTTGGGAGGCTAAGGCAAGTGGACTGCCTGARGTCAGGAGTTCAAGACCAGCCTGGCTAACATGRTGAAACTCTGTC
TCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTG-3'

[Top]

RS ID: 12721629 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 99359800

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTCCYACCTTCATAACTCCTCCACACATCTCAGTGGGCCACTGAGCACAGCAATGGGCATGACAGTTATTAAAACACTTTATAAATG
CTTCGATCCTTTACCAGTATGAGTTAGTCTCTGGAGCTCCTAATACTTCATTAGTACTGCATGGACTGAGTTAAAAGTTAATTCAAAATC
TCAATTTATCCAMATCTGTTTYGTTCTTTCCAGGCACCACCCACCTATGATAMTGTGCTACAGATGGAGTATCTTGACRTGGTGGTGAAT
GAAAYGCTCAGATTATTCCCARTTGCTATGAGA C/T TTGAGAGGGTCTGCAAAAAAGATGTTGAGATCAATGGGATGTTCATTCCCAA
AGGGGTGGTGGTGATGATTCCAAGCTATGCTCTTCACCGTGACCCAAAGTACTGGACAGAGCCTGAGAAGTTCCTCCYTGAAAGGTACAA
GGYCCCTGGGAAGGGAGCCCTCCCTGAACCAGCCTGGTTCAAGCATATTCTGCCTCTCTTAATCTACAGGACAGTCATGTGGTTGTATAA
TTATTTGCTTGTATTTTTATATTTAGAGATTTTTTTAATCATCAAATTGATTATTGTCACACTTTACA-3'

[Top]

RS ID: 12721627 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99366093

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCTGATAACACCTTCTGATGGAGTGTGATAGAAGGTGATCTAGTAGATCTGAAAGTCTGTGGCTGTTTGTCTGTCTTGACTGGAC
ATGTGGGTTTCCTGTTGCATGCATAGAGGAAGGATGGTAAAAAGGTGCTGATTTTAATTTTCCACATCTTTCTCCACTCAGCGTCTTTGG
GGCCTACAGCATGGATGTGATCA C/G TAGCACATCATYTGGAGTGAACRTYGACTCTCTCAACAATCCACAAGACCCCTTTGTGGAAA
ACACCAAGAAGCTTTTAAGATTTGATTTTTTGGATCCATTCTTTCTCTCAATAAGTATGTGGACTACTATTTCCTTTWATTTATCTTKCT
CTCTTAAAAATAACTGCTTTATTGAGAYATAAATCACCATGTAATTCATCCACTTAA-3'

[Top]

RS ID: 10250778 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99359871

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 T [Thr] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGAGGAACTTCTCAGGCTCTGTCCAGTACTTTGGGTCACGGTGAAGAGCATAGCTTGGAATCATCACCACCACCCCTTTGGGAATGA
ACATCCCATTGATCTCAACATCTTTTTTGCAGACCCTCTCAAGTCTCATAGCAATTGGGAATAATCTGAGCGTTTCATTCACCACCATGT
CAAGATACTCCATCTGTAGCACA G/T TATCATAGGTGGGTGGTGCCTGGAAAGAACGAAACAGATTTGGATAAATTGAGATTTTGAAT
TAACTTTTAACTCAGTCCATGCAGTACTAATGAAGTATTAGGAGCTCCAGAGACTAACTCATACTGGTAAAGGATCGAAGCATTTATAAA
GTGTTTTAATAACTGTCATGCCCATTGCTGTGCTCAGTGGCCCACTGA-3'

[Top]

RS ID: 4987161 Link_out

Alleles: C/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
7 99366081

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 F [Phe] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTGGCACCTGATAACACCTTCTGATGGAGTGTGATAGAAGGTGATCTAGTAGATCTGAAAGTCTGTGGCTGTTTGTCTGTCTTGA
CTGGACATGTGGGTTTCCTGTTGCATGCATAGAGGAAGGATGGTAAAAAGGTGCTGATTTTAATTTTCCACATCTTTCTCCACTCAGCGT
CTTTGGGGCCTACAGCATGGATGTGATCACTAGCACATCAT C/T TGGAGTGAACATYGACTCTCTCAACAATCCACAAGACCCCTTTG
TGGAAAACACCAAGAAGCTTTTAAGATTTGATTTTTTGGATCCATTCTTTCTCTCAATAAGTATGTGGACTACTATTTCCTTTWATTTAT
CTTKCTCTCTTAAAAATAACTGCTTTATTGAGAYATAAATCACCATGTAATTCAT-3'

[Top]

RS ID: 4987159 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 99366068

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_017460 Link_out NP_059488 Link_out 3 I [Ile] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACCCAGCGTAGGGCCAGCTGCATCACTGGCACCTGATAACACCTTCTGATGGAGTGTGATAGAAGGTGATCTAGTAGATCTGAAAG
TCTGTGGCTGTTTGTCTGTCTTGACTGGACATGTGGGTTTCCTGTTGCATGCATAGAGGAAGGATGGTAAAAAGGTGCTGATTTTAATTT
TCCACATCTTTCTCCACTCAGCGTCTTTGGGGCCTACAGCATGGATGTGATCACTAGCACATCATTTGGAGTGAACAT C/T GACTCTC
TCAACAATCCACAAGACCCCTTTGTGGAAAACACCAAGAAGCTTTTAAGATTTGATTTTTTGGATCCATTCTTTCTCTCAATAAGTATGT
GGACTACTATTTCCTTTTATTTATCTTTCTCTCTTAAAAATAACTGCTTTATTGAGATATAAATCACCATGTAATTCATCCACTTAAAAT
ATACAGTTCAGTGATTTGTAGTACATTTGAAGATATGTGTGACCATCATCATTTTAAACTTTAAAACT-3'

[Top]

RS ID: 4986913 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99358459

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 P [Pro] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAACAAGGACAACATAGATCCTTACAYATACACACCCTTTGGAAGTGGACCCAGAAACTGCATTGGCAYGAGGTTTGCTCTCATGAA
CATGAAACTTGCTCTAATCAGAGTCCTTCAGAACTTCTCCTTCAAA C/T CTTGTAAAGAAACACAGGTTAGTCAATTTTCTATAAAAA
TAATGTTGTATTAATAATTCTTTTAACTGAGTGGTCTGTATTTTTTAAAAAGAATATGCTTGTTTAATCTTTTACTAATTTGTTCTCTGG
GCCAAAGAATCAATTAGGCCCATCTGTGATCTTTAAGGGTGCTTCAGTTCTGG-3'

[Top]

RS ID: 4986910 Link_out

Alleles: C/T

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
7 99358524

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 M [Met] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CATCACTTATGTGCCTTTTATAGTGTGGACACATCACCACCCTGAATATAATTTCAGTGTTTAGAAATAAGTATTCTTTGCAACACT
ATTTATCTCATCTCAACAAGACTGAAAGCTCCTATAGTGTCAGGAGAGTAGAAAGGATCTGTAGCTTACAATTCTCATAGCAAAATAAGC
ATAGCAGGATTTCAATGACCAGCCCACAAAAGTATCCTGTGTACTACTAGTTGAGGGGTGGCCCCTAAGTAAGAAACCCTAACATGTAAC
TCTTAGGGGTATTATGTCATTAACTTTTTAAAAATCTACCAACGTGGAACCAGATTCAGCAAGAAGAACAAGGACAACATAGATCCTTAC
ATATACACACCCTTTGGAAGTGGACCCAGAAACTGCATTGGCA C/T GAGGTTTGCTCTCATGAACATGAAACTTGCTCTAATCAGAGT
CCTTCAGAACTTCTCCTTCAAACCTTGTAAAGAAACACAGGTTAGTCAATTTTCTATAAAAATAATGTTGTATTAATAATTCTTTTAACT
GAGTGGTCTGTATTTTTTAAAAAGAATATGCTTGTTTAATCTTTTACTAATTTGTTCTCTGGGCCAAAGAATCAATTAGGCCCATCTGTG
ATCTTTAAGGGTGCTTCAGTTCTGGAGTTCAAAAGCTGTAGCATCAAAAACATCATGTAAAGCCCATGTAGATTAGCATGGCATAATTAT
CTGCAGTCTCCTTGAACTTGAGCAAAGTTTACATTCAGTTTCAAGTCGATTGGAAAGATGGGGAAGTATTTTGCACAGTCATGAAGTG-3
'

[Top]

RS ID: 4986909 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99359670

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATACTTCATTAGTACTGCATGGACTGAGTTAAAAGTTAATTCAAAATCTCAATTTATCCAAATCTGTTTCGTTCTTTCCAGGCACCA
CCCACCTATGATACTGTGCTACAGATGGAGTATCTTGACATGGTGGTGAATGAAACGCTCAGATTATTCCCAATTGCTATGAGACTTGAG
AGGGTCTGCAAAAAAGATGTTGAGATCAATGGGATGTTCATTCCCAAAGGGGTGGTGGTGATGATTCCAAGCTATGCTCTTCACCGTGAC
CCAAAGTACTGGACAGAGCCTGAGAAGTTCCTCC C/T TGAAAGGTACAAGGCCCCTGGGAAGGGAGCCCTCCCTGAACCAGCCTGGTT
CAAGCATATTCTGCCTCTCTTAATCTACAGGACAGTCATGTGGTTGTATAATTATTTGCTTGTATTTTTATATTTAGAGATTTTTTTAAT
CATCAAATTGATTATTGTCACACTTTACAAACCATAGACTAGAAAAAAGAAAACTACAGTCATCCACAATTCCAACAACTTACGATGAAG
GTCATCAGTTATGTCCTTATGGGTCATCAGTGTCCAAAATGTAAGGACTCTTTTAAAAACACATGATCAC-3'

[Top]

RS ID: 4986908 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99367392

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACAAAATTCATTATAAAATGTCACTTACTGCTCCATGCTGGGGAAAGCCATGTCCTTCTGGGACTAGAGTCTGCACATTTAACTAT
GGGTGGTGTTGTGTTTTGTGCTTAGATGGTCCCTATCATTGCCCAGTATGGAGATGTGTTGGTGAGAAATCTGAGGCRGGAAGCAGAGAC
AGGCAAGCCTRTCACCTTGAAA A/G AGTAAGTAGAAGCGCAGCCATGGGGTTCTGAGCTGTCATGAACCCCTCCAGCTGCCTGCCATG
GAGCTGATATTCCTGCTGTTGGGTTATTCCAGTGACCAGACAAAAGGAGGGCTGTGGTAATGCAACTTCAATGGGTCTCCCAAGATGGGG
CAGCTC-3'

[Top]

RS ID: 4986907 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By hap map
  • By cluster

Details:

Chromosome Reference Position
7 99367427

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 R [Arg] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTTTTAATAAGAAACTTAAAGAATGAATCTGGTGGGGACAGGTATAAAATAAGATCACAGTCCCTTTCCAAGGGGTAGTCCACTGAA
TTTGAGCTGCCTAAAAATGGTCTTTTATCTTTATGTACAGAAAACACATCACAAAATTCATTATAAAATGTCACTTACTGCTCCATGCTG
GGGAAAGCCATGTCCTTCTGGGACTAGAGTCTGCACATTTAACTATGGGTGGTGTTGTGTTTTGTGCTTAGATGGTCCCTATCATTGCCC
AGTATGGAGATGTGTTGGTGAGAAATCTGAGGC A/G GGAAGCAGAGACAGGCAAGCCTGTCACCTTGAAAGAGTAAGTAGAAGCGCAG
CCATGGGGTTCTGAGCTGTCATGAACCCCTCCAGCTGCCTGCCATGGAGCTGATATTCCTGCTGTTGGGTTATTCCAGTGACCAGACAAA
AGGAGGGCTGTGGTAATGCAACTTCAATGGGTCTCCCAAGATGGGGCAGCTCCGATGAGGAGGTGGGGCAGCTGGAGGAAAAGGATCTTC
TCCCCTGTGCACAGGGGCCAGGGTTTACATATCCATTAAATTGTCACCTTGGATATTCTAGAAGACTA-3'

[Top]

RS ID: 4646438 Link_out

Alleles: -/A

Validation:

Not Completed

Details:

Chromosome Reference Position
7 99364034

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_017460 Link_out NP_059488 Link_out 2 D [Asp] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCAGTGAAATTTCTCTTTTTGCTTCTAGCACCGAGTGGATTTCCTTCAGCTGATGATTGA -/A CTCTCAGAATTCAAAAGAAACT
GAGTCCCACAAAGGTAACCAGAGTGTTTCTGAGGGCTA-3'

[Top]

RS ID: 3208363 Link_out

Alleles: G/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99364798

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 S [Ser] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAAACTAGAATTGCTCCAGGTAAATTTTGCACATTCACAATGAATTTCTTTTTCTGTTTTTGTTTTGTTTTTCCTACAGCAGTCTT
TCCATTCCTCATCCCAATTCTTGAAGTATTAAATATCTGTGTGTTTCCAAGAGAAGTTACAAATTTTTTAAGAAAA G/T CTGTAAAAA
GGATGAAAGAAAGTCGCCTCGAAGATACACAAAAGGTAAAATGTGGTGGTAGTTATAGGAGGATGTTTAGTTTTTCATAATTTTTTAGAT
AATATACATATGATCAGTGCAGTTACCTGTATGTTTTTAAAGAATGCTTTTAACATGAAGACTGCTCATGTTTAGAGCAAGAGAATTCAT
TTGGTAGAAATG-3'

[Top]

RS ID: 3208361 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99366070

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 I [Ile] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGGGGCCTACAGCATGGATGTGATCACTAGCACATCATTTGGAGTGAAC A/G TCGACTCTCTCAACAATCCACAAGACCCCTTT
GTGGAAAACACCAAGAAG-3'

[Top]

RS ID: 3091339 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 99370245

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 1 K [Lys] / E [Glu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTATGTAAAGTCAGGATCAAAGTCTGGCTTCCTGGGTTGGGCTCCAGCTGTAGAATAAGGCTGTTGATGTTTAATCAACTCTGTTTT
TTTCACACAGCTTTTATGATGGTCAACAGCCTGTGCTGGCTATCACAGATCCTGACATGATCAAAACAGTGCTAGTG A/G AAGAATGT
TATTCTGTCTTCACAAACCGGAGGGTAAGCATTCATGTGTTGAAATTAAAATACTGATTGattaaatttatattttgaaattcttatata
ttcatagacagttgcctaaaaaatgtccaggaaggttccacgtccacttcatcctgtcccccccgaatggtaacatcttgcaatcttgca
taactataaatacagtatATTCATGTTACTATATAGTA-3'

[Top]

RS ID: 1041988 Link_out

Alleles: C/T

Validation:

  • By hap map
  • By cluster

Details:

Chromosome Reference Position
7 99358566

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_017460 Link_out NP_059488 Link_out 2 I [Ile] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACAAAAGTATCCTGTGTACTACTAGTTGAGGGGTGGCCCCTAAGTAAGAAACCCTAACATGTAACTCTTAGGGGTATTATGTCATT
AACTTTTTAAAAATCTACCAACGTGGAACCAGATTCAGCAAGAAGAACAAGGACAACATAGATCCTTACA C/T ATACACACCCTTTGG
AAGTGGACCCAGAAACTGCATTGGCAYGAGGTTTGCTCTCATGAACATGAAACTTGCTCTAATCAGAGTCCTTCAGAACTTCTCCTTCAA
AYCTTGTAAAGAAACACAGGTTAGTCAATTTTCTATAAAAATAATGTTGTATTAATAATTCTTTTAACTGAGTGGTCTGTATTTTTTAAA
AAGAATATGCTTGTTTAATCTTTTACTAATTTGTTCTCTGGGCCAAAGAATCAATTA-3'