RGD:15155597 Rat Genome Database

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Variant: RGD:15155597 -  Homo sapiens

RGD ID: 15155597
RS ID: rs935030527
ClinVar ID: CV752340
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2C19  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 96,609,697
GRCh38 10 94,849,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008384.3:g.92260C>A
NM_000769.4:c.1173C>A
NC_000010.11:g.94849940C>A
NC_000010.10:g.96609697C>A
More... 		05/17/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP2C19
Accession:NM_000769
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 391
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGY
EVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTK
ASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFM
ESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVT
AKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRNYLIPKGTTILTSLTSVLHDNKE
FPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVP
PFYQLCFIPV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000924496 CLINVAR
dbSNP (RS) rs935030527 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CYP2C19 CLINVAR
OMIM 124020 CLINVAR