RGD:12901821 Rat Genome Database

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Variant: RGD:12901821 -  Homo sapiens

RGD ID: 12901821
RS ID: rs1064796643
ClinVar ID: CV411183
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPN1LW  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,416,268
GRCh38 X 154,150,796
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009105.2:g.11546C>T
NC_000023.11:g.154150796C>T
NC_000023.10:g.153416268C>T
NP_064445.2:p.Arg85Cys
More... 		03/06/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:OPN1LW
Accession:NM_020061
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWMIFVVTASVFTNGLVLAATMK
FKKLCHPLNWILVNLAVADLAETVIASTISIVNQVSGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFG
NVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVLMVTCCIIPLAIIMLCYL
QVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFAYCVCWGPYTFFACFAAANPGYAFHPLMAALPAYFAKSATIYNPV
IYVFMNRQFRNCILQLFGKKVDDGSELSSASKTEVSSVSSVSPA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000485633 CLINVAR
dbSNP (RS) rs1064796643 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene OPN1LW CLINVAR
OMIM 300822 CLINVAR