SNPJam Report for NPC1L1

Showing coding SNPs for NPC1L1 (Gene ID: 29881)

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: 79836534 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44575482

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 I [Ile] / N [Asn]
missense NM_001101648 Link_out NP_001095118 Link_out 2 I [Ile] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAACACTTGCAAGAGGTATTACCCTTTGGGGCAGCCACTTGGGTGTGTCCACTTTGCTGTTCTGAGGTGCTGTGGTTAGGAAAGTT
GTAGAAGGCCTACTGAAGATGCCTGGGGTCCTGGGCTAGCCCACTTAGCTGTGTCCCTCCCGCTTCTCACCATCACTCGGCTCCAGCTGG
AATAGCTGCCCAGGGCCAGAGAG A/T TGTACAGGAATATGACAATGTAGCTGGTGGCAAAGATGGGCAGGTCTTCAGCTGTGGTGCGA
TTGATCTCGTCTTCCAGAGAGCGCTGTGGACACACACCCGACCAGCCCCCACTGACCGTGCCTGCTTCAGCCAGGCCAGCTCTCAATAGC
TCGGTCACTGGGCACTAATTGTGTGTTGTGTCATAGGGCCTGATGGCC-3'

[Top]

RS ID: 79803700 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
7 44579068

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 1 A [Ala] / S [Ser]
missense NM_001101648 Link_out NP_001095118 Link_out 1 A [Ala] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGAGTTCTGTAAAGACCAGGCCCGCTGCCAAGGCCACCACCGGGATGACAGATAGCACCAAGATGGTCAGAGGCCACGAAGCCAC
CCACGTGCCCCAGCCCTGGAAGAACTGGCCAAGGAGGGTGTGGGTGGAGAAGCTGAGCTTGTCAGAGAGGCTGGTGCCCTTCTTGGGGTC
CACCATCTTGCTTTTGTCCCTGG A/C GGGGGCCACACGGAATCCCACAAGCAGGATGGTGACCACAGCGAAGACAGAGCAGAGGATGA
TGATGAGGACCAGACTGCCCGGCATCTGGCCCAGGTAGAAGGTGGAGTCGAGGGCCTGGGGGCGGGCTATGGCAGGACAGGATGCAGCAC
AGTCTTGGCAGGAGCAGGTCGCCACGTCGTCACCTTGGGACTCATTGC-3'

[Top]

RS ID: 79573011 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44578503

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 R [Arg] / H [His]
missense NM_001101648 Link_out NP_001095118 Link_out 2 R [Arg] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCTACCTCTGGTCCTTCAGGACCAGCTGTATGCCCGGCCAGGTTCCCAGGAGGCCATGGCAGCCCAGCCCCAGCCCCAGCCCACTCC
TCGCTTGGGCCCCACCATGGACTCACTTGGCACAGTACAGAAAATGGTCCTTCCAGTCGACTTGGGAGGTCTGCCCCATCAGTGTCTGGT
TGGCTGTGAGCAGCAGGAGCGTG C/T GGTTGTTCTGGAAATACTGCAGGAGGCTGTTGATGCAGCAGTCGTAGAGACTGGTATTGTCC
GGATTGAGGGGGGCGTAGCAGATGTCCTGCAGGGAGATGTTGCGCTGTGCTTCGGGCGACCATACCTGGAGGTGCCGCAGCCTCTCCTGC
AGCTCTAGCAGCTCCAGCAGCAAGTCCAGGTCCAGGATTCCGCTGAAG-3'

[Top]

RS ID: 79519744 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44556834

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 1 D [Asp] / H [His]
missense NM_001101648 Link_out NP_001095118 Link_out 1 D [Asp] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTATATTGGGGTACAAACCAGCCTAAGAAATAGGCCCAAGGCTGCAGCCAGAGCCTCCTGACCTAAAACTGGTCCTCATCTCATGC
AACTCCTTGCAAGCCCTCCACCCTAACCTCCAGTCTCCAGCAACCATACCCCACCTCCCTCCAGCCCAGCCACTCAGGTCCTCACGTGTA
GGGGAAGACCTCAAAAGCCGGGT C/G TGTTCCAGGCACTTTCCGCAGGTCAGCAGTGATGTTGGCTGCCAGCTCTCGAGCTGCCCGCA
GAGCTTCTGTGTAATCCTGTGAGTTTTTCAGGGGCTTGTGATAGGCCATGAACCTGGAGGCTGGACAGCCATGGCACACAGAAGATGGAA
GGGCAAAGGTCAGAGCCCTTTCCAGGACAACTTCAGAACACCGCAGAC-3'

[Top]

RS ID: 77378898 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44571388

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 S [Ser] / N [Asn]
missense NM_001101648 Link_out NP_001095118 Link_out 2 S [Ser] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGCTGGTTGCTACTGCCCCTCCCCAAATCCCAGGGGCCTAAGGGTTGAGAAGGGCCTGGGCTCACCTTGGGCAGGGCCAGCTCCTG
GTCCAGTCCCACG C/T TGATGTGGCACATGGAGTAGAGGCTCACTCCGAACAGGGCGAGAAACAGCAGCAGCTGAGAAGGGACCTGCT
GCATGAGACCACCCTGCCCAACAGCCGT-3'

[Top]

RS ID: 76327525 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44578836

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 N [Asn] / S [Ser]
missense NM_001101648 Link_out NP_001095118 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGGGGCCGAAATGCTGGTCATGGAAAGCTTTCTCACTCCGGGCTTGGCTG C/T TGGGGGCCGACCACAGCTCCACGGGGTCCGTA
GTGAGTTCTGTAAAGACC-3'

[Top]

RS ID: 74439497 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44560678

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 M [Met] / T [Thr]
missense NM_001101648 Link_out NP_001095118 Link_out 2 M [Met] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCCACAGCCACCCCAGAGAGGCCCCTGATAGCCTCCTCCTGCCTCTCTATATTCAACCCCATCCTGTGTCCCACATGTCTGTCCTCC
CCAGCAGAAGGCCCTCCCAAGCTTACCCTTTGGGACATTTGATGTTGGGCCGGTCGTTCAGGAACCAGGGAAGATACTTATGGAACTGCT
CCACCGAGGGCCTCACAGAGCCC A/G TCGTGATGCTCATGCAGTTCTTTAGGCAGTTCAGAGAGTCTGCAGAGAAAGCAGGGGTCTGG
GCAGTGACACCCCAGGGCCAGCAGCTCCTGCTTTGTGCCCCTCCTTCCCCAACAATCCCATCAAAGGTCCTGGGCACTCCAGCCTCAACC
AGTCGCTTCTAGGGGGATTTGCATTTGTCATTTGTGGGAGAAGTTCTC-3'

[Top]

RS ID: 62001882 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44578812

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 A [Ala] / G [Gly]
missense NM_001101648 Link_out NP_001095118 Link_out 2 A [Ala] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GGATCACCTGGTTGGTTCGGAAGAAGGGGCCGAAATGCTGGTCATGGAAA C/T CTTTCTCACTCCGGGCTTGGCTGTTGGGGGCC
GACCACAGCTCCACGGGG-3'

[Top]

RS ID: 61737028 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44579156

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 3 Q [Gln] / H [His]
missense NM_001101648 Link_out NP_001095118 Link_out 3 Q [Gln] / H [His]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAGCGAAGACAGAGCAGAGGATGATGATGAGGACCAGACTGCCCGGCAT A/G TGGCCCAGGTAGAAGGTGGAGTCGAGGGCCTG
GGGGCGGGCTATGGCAGG-3'

[Top]

RS ID: 52815063 Link_out

Alleles: A/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44555699

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 I [Ile] / N [Asn]
missense NM_001101648 Link_out NP_001095118 Link_out 2 I [Ile] / N [Asn]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTATGCCCCCTCTCTGCCCATAGGCGGTGGGCATGTCTGTGGAGTTTGTGTCCCACATTACCCGCTCCTTTGCCATCAGCACCAAGC
CCACCTGGCTGGAGAGGGCCAAAGAGGCCACCA A/T CTCTATGGGAAGTGCGGTGAGTGGAGAGGAGTGGGCCACCCTGTGCCCCACT
CGACACCCTGTGCCCTGCCTGATGCCCTGTGCCCTGCCTGATGCCCTGTGCCCTGCCTGACACCTGGC-3'

[Top]

RS ID: 35803101 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44578500

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 2 T [Thr] / M [Met]
missense NM_001101648 Link_out NP_001095118 Link_out 2 T [Thr] / M [Met]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGCATTTCGGCCCCTTCTTCCGAACCAACCAGGTGATCCTGACGGCTCCTAACCGGTCCAGCTACAGGTATGACTCTCTGCTGCTGG
GGCCCAAGAACTTCAGCGGAATCCTGGACCTGGACTTGCTGCTGGAGCTGCTAGAGCTGCAGGAGAGGCTGCGGCACCTCCAGGTATGGT
CGCCCGAAGCACAGCGCAACATCTCCCTGCAGGACATCTGCTACGCCCCCCTCAATCCGGACAATACCAGTCTCTACGACTGCTGCATCA
ACAGCCTCCTGCAGTATTTCCAGAACAACCGCA C/T GCTCCTGCTGCTCACAGCCAACCAGACACTGATGGGGCAGACCTCCCAAGTC
GACTGGAAGGACCATTTTCTGTACTGTGCCAAGTGAGTCCATGGTGGGGCCCAAGCGAGGAGTGGGCTGGGGCTGGGGCTGGGCTGCCAT
GGCCTCCTGGGAACCTGGCCGGGCATACAGCTGGTCCTGAAGGACCAGAGGTAGCTATTCCTACGGCTCTGGCCTGGGGCCGCCCAGATG
ATTATCTCTGCCCCTCGTCCGGCCGCCATTTCCTTTGGTCAGAGTTCCTGCTCATGGCTGCAGGTTTG-3'

[Top]

RS ID: 35030053 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44561336

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_013389 Link_out NP_037521 Link_out 2 K [Lys] / R [Arg]
frameshift NM_001101648 Link_out NP_001095118 Link_out 2 K [Lys] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CACTGCCCTGCCACCCGGGAGCACCATGTGCTCTGAAAATGGGGGCACAGTACACAGCAGTATACATGTGTGATGCCCACGGGCCAG
CACGGTCACCCACACAGGTGCTTCTCACAGAGTGCCTGTCCCTCAGGCCACATCTGCACCCATGCCCCCGACAGACCCTGCAGGATGCGT
GGGAGAGGTTGAGGGAGCCTCTCCAGTCCTCTCCTTTCTGTTGCCTCAGTTTGCCCGAGCTGTGGTGGACAGTGAGTCCCCATGGCCCCA
CACTCACTGACGGTCGAGGGGCAGAACTTGTCC -/C TTATTGGGGCCAGATATATAAAGGCGGCAGCAGGAGGACGGGGTCAGCCAGT
CAATGAAGTCATCCACCCAGGAGGAGGCAGGGATGGCCAGGTAAGACCTAAGGGGCAGGTGGGAGGAAGGGTGAAAAGGCCAGCTGGGCA
GGGTGGTGGGTCCTTCTCGTGGCCCAACCCCCACGCAGCCCTCCCCAGGCATACGGCAGCAAGGCAGCAGGGCAGCAGGACAGGGATAGA
ACATCAGGAAGAGGGGACTGGAGAGGACTGGAGGGACTCAAACAGGGAGTAGGCTGGGGTTTGGGGCG-3'

[Top]

RS ID: 10264715 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
7 44555406

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_013389 Link_out NP_037521 Link_out 3 Y [Tyr] / Y [Tyr]
coding-synonymous NM_001101648 Link_out NP_001095118 Link_out 3 Y [Tyr] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACATGTATAAAGGAAGTATTAATATTATTTAGTGAAGCATTTGTTTTAGGCAGGCATGTCTATGTGTGCCCGTGCATGTCACCTCTC
TGTGTAAAATATATTTCTTGCTGAAGGGCATGCTTAAAAGTCCAACAGCAGTGCAGTGAAGATCCACAGTGTACAGGGCCACAGAAACGT
TGTTTGAGACATACATAGCTGACAAAAAAAGATGTTCACAGCACATTAAATGAATAATAGTAGCTTCCAAGACAGAATTGCCACATGGTC
ATAGTCCTGGCTTCTGACATCTGCCCATGGCTCGTTTGCACTTCCTGAGCTTTTGTGGTGAGCATGCACTGTTACTGTTGTCGTCAGCAT
AATCATGACAGTCTGGTAGGAACAGGCCTGGGCACTCACCCAC A/G TAGCTGAGGATGACGGGCAGGAAGACCAAGCCATGCAGCAGG
CCCAGCAGAGTGATCAGGAGGTTGAGGCGGAAGAAGAAGATCTGAATGAGCTGGGCCTTGGCGAGGCCCAGGACAAGGATGCCAGGCAGG
TTGGTCATGGCCACACCTGCAAACACCTGGGGGGTTCAGAGCCAGGTGTCAGGCAGGGCACAGGGCATCAGGCAGGGCACAGGGCATCAG
GCAGGGCACAGGGTGTCGAGTGGGGCACAGGGTGGCCCACTCCTCTCCACTCACCGCACTTCCCATAGAGATGGTGGCCTCTTTGGCCCT
CTCCAGCCAGGTGGGCTTGGTGCTGATGGCAAAGGAGCGGGTAATGTGGGACACAAACTCCACAGACATGCCCACCGCCTATGGGCAG-3
'

[Top]

RS ID: 7799594 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44558217

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001101648 Link_out Not Applicable Not Applicable Not Applicable
missense NM_013389 Link_out NP_037521 Link_out 2 S [Ser] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTAATTGGTTTTTAATTTGCATATTCCTATAGGAAAGGACTAGAAAGGAAGACAGAAAAATGAGAACGGTTGGATTATTAGAGCT
GTGGCTTAGGGCTCCTGCCAGATAAAGGTTATTTCTTAATGACTTTTAAGAAATTAAGGTTATTggccgggtgtggtggctcatgcctgt
aatcccagcactttggaaggctaaggcaggtcgatcacctgaggtcaggagttcaagaccagcctgcccaacatggtgaaaccctgtctc
tactaaaaatgcaaaaattagccaggcgtggtggcacacccctgtaatcccagctacttggggggctgaggcaggagaattcttgaactc
aggaggcagaggctgcagtgagctgagatcatgctactgcactccagctgggcaacagagcaagatcccatctcaaaaaaaaaaaagaag
aaaTTAAGGTTATTAAGACCTTTATACAATAAAGGGttttttgttcttgtttttgttttcgagacagagtctcactgtcaccgcagctgg
agtgcagtggtgcgatcttggctcactgcaacttctgcttcccgggttcaagtgattgtcctgcctcagcctcccaagtagctgggatta
caggtgcatgccaccatgcctggctaatttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctcaaactcctga
cctcaagtgattcgccggcctcggtctcccaaactgctgggattacaggtgtgagccaccgcacctggccCAAAAAGGTTGTTTCTtggc
gacactctgcctctattaataatacaaaaattagctgagcatagtggcatgtgcctgtaatcccagctactagggaggctgaggcaggag
aattacttgaatccaggaggtagaggttgcagtgagcc A/G agattgtgccactgtactccagcctgggtgacagaatggcaactgtg
tctcaaaaaaaaaaaaaaaGTTATTTCTTTATTGTGTACAGTGAGCATGTGTATCTGAAAAAGAAACAATAGTGCTACATAGGTGTGGAG
AAAAAAGAAGAGAAATGTTCTTGGATACATACAATCTCAGAGCAGGGGAGGTGCCTGGAGAACTTCCCACCAGGCCTCTGaccacctgga
gggtagttcacacacaaatgcccagcccagcccagcaattcggggtctgcaaagtcttgggtgagggctgagaacttgcgtttctTCTTt
ttctttctttctttctttttcttccttccttccttccttctttctttctttctctttctctctctttctctctctctctttctccctttc
tttcttttcttttcttttctttcCttttcttctctcttcttttctttcaatatctggcttttttgcccaggctggtctcagacagactag
actcctgggctcaagtgatcctcccaccttggcctcccaacgtactgggattataggcgtgagctgcagcacctagctGGAActtcattt
tgaacaatttccaggttatgctgatgctgctggctgggggacctcattttgggaagtgctgCTCTAGACTAACCTAGTGCACACACAAGA
AGACAAAGGTCA-3'

[Top]

RS ID: 7799582 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44558203

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001101648 Link_out Not Applicable Not Applicable Not Applicable
missense NM_013389 Link_out NP_037521 Link_out 1 L [Leu] / F [Phe]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTAATTGGTTTTTAATTTGCATATTCCTATAGGAAAGGACTAGAAAGGAAGACAGAAAAATGAGAACGGTTGGATTATTAGAGCT
GTGGCTTAGGGCTCCTGCCAGATAAAGGTTATTTCTTAATGACTTTTAAGAAATTAAGGTTATTggccgggtgtggtggctcatgcctgt
aatcccagcactttggaaggctaaggcaggtcgatcacctgaggtcaggagttcaagaccagcctgcccaacatggtgaaaccctgtctc
tactaaaaatgcaaaaattagccaggcgtggtggcacacccctgtaatcccagctacttggggggctgaggcaggagaattcttgaactc
aggaggcagaggctgcagtgagctgagatcatgctactgcactccagctgggcaacagagcaagatcccatctcaaaaaaaaaaaagaag
aaaTTAAGGTTATTAAGACCTTTATACAATAAAGGGttttttgttcttgtttttgttttcgagacagagtctcactgtcaccgcagctgg
agtgcagtggtgcgatcttggctcactgcaacttctgcttcccgggttcaagtgattgtcctgcctcagcctcccaagtagctgggatta
caggtgcatgccaccatgcctggctaatttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctcaaactcctga
cctcaagtgattcgccggcctcggtctcccaaactgctgggattacaggtgtgagccaccgcacctggccCAAAAAGGTTGTTTCTtggc
gacactctgcctctattaataatacaaaaattagctgagcatagtggcatgtgcctgtaatcccagctactagggaggctgaggcaggag
aattacttgaatccaggaggtaga A/G gttgcagtgagccgagattgtgccactgtactccagcctgggtgacagaatggcaactgtg
tctcaaaaaaaaaaaaaaaGTTATTTCTTTATTGTGTACAGTGAGCATGTGTATCTGAAAAAGAAACAATAGTGCTACATAGGTGTGGAG
AAAAAAGAAGAGAAATGTTCTTGGATACATACAATCTCAGAGCAGGGGAGGTGCCTGGAGAACTTCCCACCAGGCCTCTGaccacctgga
gggtagttcacacacaaatgcccagcccagcccagcaattcggggtctgcaaagtcttgggtgagggctgagaacttgcgtttctTCTTt
ttctttctttctttctttttcttccttccttccttccttctttctttctttctctttctctctctttctctctctctctttctccctttc
tttcttttcttttcttttctttcCttttcttctctcttcttttctttcaatatctggcttttttgcccaggctggtctcagacagactag
actcctgggctcaagtgatcctcccaccttggcctcccaacgtactgggattataggcgtgagctgcagcacctagctGGAActtcattt
tgaacaatttccaggttatgctgatgctgctggctgggggacctcattttgggaagtgctgCTCTAGACTAACCTAGTGCACACACAAGA
AGACAAAGGTCA-3'

[Top]

RS ID: 7782372 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
7 44558190

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
intron NM_001101648 Link_out Not Applicable Not Applicable Not Applicable
missense NM_013389 Link_out NP_037521 Link_out 2 D [Asp] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACTTAATTGGTTTTTAATTTGCATATTCCTATAGGAAAGGACTAGAAAGGAAGACAGAAAAATGAGAACGGTTGGATTATTAGAGCT
GTGGCTTAGGGCTCCTGCCAGATAAAGGTTATTTCTTAATGACTTTTAAGAAATTAAGGTTATTggccgggtgtggtggctcatgcctgt
aatcccagcactttggaaggctaaggcaggtcgatcacctgaggtcaggagttcaagaccagcctgcccaacatggtgaaaccctgtctc
tactaaaaatgcaaaaattagccaggcgtggtggcacacccctgtaatcccagctacttggggggctgaggcaggagaattcttgaactc
aggaggcagaggctgcagtgagctgagatcatgctactgcactccagctgggcaacagagcaagatcccatctcaaaaaaaaaaaagaag
aaaTTAAGGTTATTAAGACCTTTATACAATAAAGGGttttttgttcttgtttttgttttcgagacagagtctcactgtcaccgcagctgg
agtgcagtggtgcgatcttggctcactgcaacttctgcttcccgggttcaagtgattgtcctgcctcagcctcccaagtagctgggatta
caggtgcatgccaccatgcctggctaatttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctcaaactcctga
cctcaagtgattcgccggcctcggtctcccaaactgctgggattacaggtgtgagccaccgcacctggccCAAAAAGGTTGTTTCTtggc
gacactctgcctctattaataatacaaaaattagctgagcatagtggcatgtgcctgtaatcccagctactagggaggctgaggcaggag
aattacttgaa C/T ccaggaggtagaggttgcagtgagccgagattgtgccactgtactccagcctgggtgacagaatggcaactgtg
tctcaaaaaaaaaaaaaaaGTTATTTCTTTATTGTGTACAGTGAGCATGTGTATCTGAAAAAGAAACAATAGTGCTACATAGGTGTGGAG
AAAAAAGAAGAGAAATGTTCTTGGATACATACAATCTCAGAGCAGGGGAGGTGCCTGGAGAACTTCCCACCAGGCCTCTGaccacctgga
gggtagttcacacacaaatgcccagcccagcccagcaattcggggtctgcaaagtcttgggtgagggctgagaacttgcgtttctTCTTt
ttctttctttctttctttttcttccttccttccttccttctttctttctttctctttctctctctttctctctctctctttctccctttc
tttcttttcttttcttttctttcCttttcttctctcttcttttctttcaatatctggcttttttgcccaggctggtctcagacagactag
actcctgggctcaagtgatcctcccaccttggcctcccaacgtactgggattataggcgtgagctgcagcacctagctGGAActtcattt
tgaacaatttccaggttatgctgatgctgctggctgggggacctcattttgggaagtgctgCTCTAGACTAACCTAGTGCACACACAAGA
AGACAAAGGTCA-3'

[Top]

RS ID: 4724306 Link_out

Alleles: C/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44560374

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_013389 Link_out NP_037521 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_001101648 Link_out NP_001095118 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGGGAGTGAGAGAAGGGGTGAAGTCTGAGATGTGGAGCTGGGAAACAAGACCCCTGCTGACAGGGCCAGCGCAGTGAGAACCTCCTG
ACAAAGGAGGGAGACAACATGTGACAGGCTGTTCCCTGGGGTTTTCGGGGGCCCTCCAGAGCAACCGATTTATGTCCTCCCCTCCAGGCA
AGGCCATGCTTACCTAAAACCTG C/G CCATCTGAAGTCAAGTTCACAGAGGTGCTGTATGCTGCCAGGCCGCTGCAAGAAGGTCAGGG
CAAAGGCTTAGCCAGGGACGAAGCTTCTTTCATCTGCCCAGCCCACAGCCACCCCAGAGAGGCCCCTGATAGCCTCCTCCTGCCTCTCTA
TATTCAACCCCATCCTGTGTCCCACATGTCTGTCCTCCCCAGCAGAAG-3'

[Top]

RS ID: 2072183 Link_out

Alleles: C/G

Validation:

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

Details:

Chromosome Reference Position
7 44579180

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_013389 Link_out NP_037521 Link_out 3 L [Leu] / L [Leu]
coding-synonymous NM_001101648 Link_out NP_001095118 Link_out 3 L [Leu] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTGGCGTGTATGGCTCTGCCCTTTGCAATGCCCAGCGCTGGCTCAACTTCCAGGGAGACACAGGCAATGGTCTGGCCCCACTGGACA
TCACCTTCCACCTCTTGGAGCCTGGCCAGGCCGTGGGGAGTGGGATTCAGCCTCTGAATGAGGGGGTTGCACGTTGCAATGAGTCCCAAG
GTGACGACGTGGCGACCTGCTCCTGCCAAGACTGTGCTGCATCCTGTCCTGCCATAGCCCGCCCCCAGGCCCT C/G GACTCCACCTTC
TACCTGGGCCAGATGCCGGGCAGTCTGGTCCTCATCATCATCCTCTGCTCTGTCTTCGCTGTGGTCACCATCCTGCTTGTGGGATTCCGT
GTGGCCCCCGCCAGGGACAAAAGCAAGATGGTGGACCCCAAGAAGGGCACCAGCCTCTCTGACAAGCTCAGCTTCTCCACCCACACCCTC
CTTGGCCAGTTCTTCCAGGGCTGGGGCACGTGGGTGGCTTCGTGGCCTCTGACCATCT-3'

[Top]

RS ID: 1468384 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
7 44578466

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 3 M [Met] / I [Ile]
missense NM_001101648 Link_out NP_001095118 Link_out 3 M [Met] / I [Ile]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGAGCTGCAGGAGAGGCTGCGGCACCTCCAGGTATGGTCGCCCGAAGCACAGCGCAACATCTCCCTGCAGGACATCTGCTACGCCCC
CCTCAATCCGGACAATACCAGTCTCTACGACTGCTGCATCAACAGCCTCCTGCAGTATTTCCAGAACAACCGCACGCTCCTGCTGCTCAC
AGCCAACCAGACACTGAT A/G GGGCAGACCTCCCAAGTCGACTGGAAGGACCATTTTCTGTACTGTGCCAAGTGAGTCCATGGTGGGG
CCCAAGCGAGGAGTgggctggggctggggctgggCTGCCATGGCCTCCTGGGAACCTGGCCGGGCATACAGCTGGTCCTGAAGGACCAGA
GGTAGCTATTCCTACGGCTCTGGCCTGGGGCCGCCCAGATGATTATCTCTGCCCCTCGTCCGGCCGCCATTTCCTTTGGTCAGAGTTCCT
GCTCATGGCTGCAGGTTTGTGCGTGGCCATCGCTGGCCCTTCAACCCCGAGTCCACTCTGTCTTTCTGCAGATTTCTTGACATGTGGGAG
CTCCCTGCCACACTCTTGCTTTAAGTCTGACAGAGGAGCCCGATTGGCAGAGTACATATTTATATTTGCTATGTTTTGCTTCTTGTTTCT
GTGCCAGGGGCCGTAGGGCCATCAGTAACCCATGAGGTACCATGGTATGCATTGGAAAAGGTGCCCTCAGGCCAGAGGTCGTGGCTGGTC
TCAGGCACCTGGGCCGGGTGTCCTGGGGTAGGCCACAGCCACACACACTTCTATTGATTGGGGTTCGGTCTTTGGTTCTGTCCACTCTGG
TGTGCTGCCAACAAGATGCCAACAACGCTGCTGGGCCAAGGGGGCCAAGAGCCAAGGGCAGCAGCAGGGCCTTGGCAGTGGAGGCTCCTT
GAGGTTGGAGTAGAGCAGAGGTCCTCAAGATGAACGTTTAGTACTCCATACTCCAGAGCAAATGAGAGTTA-3'

[Top]

RS ID: 217435 Link_out

Alleles: C/T

Validation:

  • By frequency

Details:

Chromosome Reference Position
7 44553204

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_013389 Link_out NP_037521 Link_out 1 E [Glu] / K [Lys]
missense NM_001101648 Link_out NP_001095118 Link_out 1 E [Glu] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGGAGACTCGGGAGGGGTGATTTGGGCAAGAGGCCACCATGACTGCTGCCACCGCCTCCT C/T AGCCCGCTTCTGCTCCAGTG
CCAGAGCCGGGTTGACGTCAGGCCCTGCGGAGACAGAGAACCACAGTCAGAGAGGTGGGCAGGGGACACAGGTGAGAAGCTATTCCTGGT
TCTGTACAACAAACCCAGGGCAGGAAGGGTCCCAGGGGGGATCTGTGCCATGTGCCTTCCAGGGTCACTATGTTCACAGCCCAAGCTTCA
GGGATGTCCTGGTCCCTCCATCCCCCAAGCATTTTGGGAACCTCCAAGGAATAGCCACCACCTGCAGCTCCAAGGCCCTGGATATCCTTC
GTCCAAGCACACCCCACGACTGCTCCTCCTTGCCCCTCTCTTATGTCTCATCCACCACCCCCAGCGCACACACTCTACTCCTTCCAAGAG
GGTCAGGGAGTCCCCACAAGAGACATGGTTAGGAACCACAGAGCTGTGTGGGCTCCAACCCCTACTACCTTTGACCAAGTCTGTAACCTG
GGGCAGgtgtctcagttccctcatctgtaaaatgggaaggataataatacctgcctcGGGGGTAGTAAGAGA-3'

[Top]

RS ID: 217434 Link_out

Alleles: A/G

Validation:

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

Details:

Chromosome Reference Position
7 44553238

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_013389 Link_out NP_037521 Link_out 3 V [Val] / V [Val]
coding-synonymous NM_001101648 Link_out NP_001095118 Link_out 3 V [Val] / V [Val]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TGTGGAGACTCGGGAGGGGTGATTTGGGCAAGAGGCCACCATGACTGCTGCCACCGCCTCCTTAGCCCGCTTCTGCTCCAGTGCCAG
AGCCGGGTT A/G ACGTCAGGCCCTGCGGAGACAGAGAACCACAGTCAGAGAGGTGGGCAGGGGACACAGGTGAGAAGCTATTCCTGGT
TCTGTACAACAAACCCAGGGCAGGAAGGGTCCCAGGGGGGATCTGTGCCATGTGCCTTCCAGGGTCACTATGTTCACAGCCCAAGCTTCA
GGGATGTCCTGGTCCCTCCATCCCCCAAGCATTTTGGGAACCTCCAAGGAATAGCCACCACCTGCAGCTCCAAGGCCCTGGATATCCTTC
GTCCAAGCACACCCCACGACTGCTCCTCCTTGCCCCTCTCTTATGTCTCATCCACCACCCCCAGCGCACACACTCTACTCCTTCCAAGAG
GGTCAGGGAGTCCCCACAAGAGACATGGTTAGGAACCACAGAGCTGTGTGGGCTCCAACCCCTACTACCTTTGACCAAGTCTGTAACCTG
GGGCAGgtgtctcagttccctcatctgtaaaatgggaaggataataatacctgcctcGGGGGTAGTAAGAGA-3'