RGD:12896022 Rat Genome Database

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Variant: RGD:12896022 -  Homo sapiens

RGD ID: 12896022
RS ID: rs145009674
ClinVar ID: CV390572
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPN1LW  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 153,418,535
GRCh38 X 154,153,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020061.6:c.532A>G
NG_009105.2:g.13812A>G
NC_000023.11:g.154153062A>G
NC_000023.10:g.153418535A>G
More... 		03/29/2016 missense variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:OPN1LW
Accession:NM_020061
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWMIFVVTASVFTNGLVLAATMK
FKKLRHPLNWILVNLAVADLAETVIASTISIVNQVSGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFG
NVRFDAKLAIVGIAFSWVWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVLMVTCCIIPLAIIMLCYL
QVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFAYCVCWGPYTFFACFAAANPGYAFHPLMAALPAYFAKSATIYNPV
IYVFMNRQFRNCILQLFGKKVDDGSELSSASKTEVSSVSSVSPA*
Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000454776 CLINVAR
dbSNP (RS) rs145009674 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene OPN1LW CLINVAR
OMIM 300822 CLINVAR