RGD:15134741 Rat Genome Database

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Variant: RGD:15134741 -  Homo sapiens

RGD ID: 15134741
RS ID: rs72549432
ClinVar ID: CV741908
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP2A6  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 41,356,316
GRCh38 19 40,850,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.41356316T>G
NM_000762.5:c.16A>C
NP_000753.3:p.Met6Leu
NM_000762.6:c.16A>C
More... 		08/29/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP2A6
Accession:NM_000762
Location:EXON
Amino Acid Prediction: M to L (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLASGLLLVALLVCLTVMVLMSVWQQRKSKGKLPPGPTPLPFIGNYLQLNTEQMYNSLMKISERYGPVFTIHLGPRRVVV
LCGHDAVREALVDQAEEFSGRGEQATFDWVFKGYGVVFSNGERAKQLRRFSIATLRDFGVGKRGIEERIQEEAGFLIDAL
RGTGGANIDPTFFLSRTVSNVISSIVFGDRFDYKDKEFLSLLRMMLGIFQFTSTSTGQLYEMFSSVMKHLPGPQQQAFQL
LQGLEDFIAKKVEHNQRTLDPNSPRDFIDSFLIRMQEEEKNPNTEFYLKNLVMTTLNLFIGGTETVSTTLRYGFLLLMKH
PEVEAKVHEEIDRVIGKNRQPKFEDRAKMPYMEAVIHEIQRFGDVIPMSLARRVKKDTKFRDFFLPKGTEVYPMLGSVLR
DPSFFSNPQDFNPQHFLNEKGQFKKSDAFVPFSIGKRNCFGEGLARMELFLFFTTVMQNFRLKSSQSPKDIDVSPKHVGF
ATIPRNYTMSFLPR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000898342 CLINVAR
dbSNP (RS) rs72549432 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP2A6 CLINVAR
OMIM 122720 CLINVAR