RGD:14695569 Rat Genome Database

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Variant: RGD:14695569 -  Homo sapiens

RGD ID: 14695569
RS ID: rs1564657013
ClinVar ID: CV166410
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2C19  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 96,522,613
GRCh38 10 94,762,856
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000769.4:c.151A>G
NG_008384.3:g.5176A>G
NM_000769.1:c.151A>G
NP_000760.1:p.Ser51Gly
More... 		missense variant drug response

Variant Details
Variant Transcripts
Gene Symbol:CYP2C19
Accession:NM_000769
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVGKSLTNLSKIYGPVFTLYFGLERMVVLHGY
EVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTK
ASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFM
ESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVT
AKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKE
FPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVP
PFYQLCFIPV*
Variant Samples
Additional References at PubMed
PMID:21270786  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000783651 CLINVAR
dbSNP (RS) rs1564657013 CLINVAR
NCBI Gene CYP2C19 CLINVAR
OMIM 124020 CLINVAR