RGD:126727787 Rat Genome Database

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Variant: RGD:126727787 -  Homo sapiens

RGD ID: 126727787
ClinVar ID: CV1017345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2C19  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 96,602,769
GRCh38 10 94,843,012
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000769.1:c.1137C>A
NM_000769.4:c.1137C>A
NG_008384.3:g.85332C>A
NC_000010.11:g.94843012C>A
More... 		03/08/2019 nonsense pathogenic

Variant Details
Variant Transcripts
Gene Symbol:CYP2C19
Accession:NM_000769
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 379
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPFVVLVLCLSCLLLLSIWRQSSGRGKLPPGPTPLPVIGNILQIDIKDVSKSLTNLSKIYGPVFTLYFGLERMVVLHGY
EVVKEALIDLGEEFSGRGHFPLAERANRGFGIVFSNGKRWKEIRRFSLMTLRNFGMGKRSIEDRVQEEARCLVEELRKTK
ASPCDPTFILGCAPCNVICSIIFQKRFDYKDQQFLNLMEKLNENIRIVSTPWIQICNNFPTIIDYFPGTHNKLLKNLAFM
ESDILEKVKEHQESMDINNPRDFIDCFLIKMEKEKQNQQSEFTIENLVITAADLLGAGTETTSTTLRYALLLLLKHPEVT
AKVQEEIERVIGRNRSPCMQDRGHMPYTDAVVHEVQRYIDLIPTSLPHAVTCDVKFRN*LIPKGTTILTSLTSVLHDNKE
FPNPEMFDPRHFLDEGGNFKKSNYFMPFSAGKRICVGEGLARMELFLFLTFILQNFNLKSLIDPKDLDTTPVVNGFASVP
PFYQLCFIPV*
Variant Samples