RGD:127282016 Rat Genome Database

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Variant: RGD:127282016 -  Homo sapiens

RGD ID: 127282016
RS ID: rs780188527
ClinVar ID: CV1070320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RHO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 129,251,251
GRCh38 3 129,532,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000539.3:c.688G>A
NG_009115.1:g.8770G>A
NC_000003.12:g.129532408G>A
NC_000003.11:g.129251251G>A
More... 		12/07/2019 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RHO
Accession:NM_000539
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRTPLNYILLNLA
VADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVCKPMSNFRFGENHAIMGVAFT
WVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVVHFTIPMIIIFFCYGQLVFTIKEAAAQQQES
ATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQGSNFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQFRNCMLTT
ICCGKNPLGDDEASATVSKTETSQVAPA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001410842 CLINVAR
dbSNP (RS) rs780188527 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RHO CLINVAR
OMIM 180380 CLINVAR