RGD:15148946 Rat Genome Database

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Variant: RGD:15148946 -  Homo sapiens

RGD ID: 15148946
RS ID: rs773949037
ClinVar ID: CV754676
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COX5A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 75,219,176
GRCh38 15 74,926,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004255.4:c.270T>C
NC_000015.10:g.74926835A>G
NC_000015.9:g.75219176A>G
NM_004255.3:c.270T>C
More... 		04/23/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COX5A
Accession:NM_004255
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHGSQETDEEFDARWVTYFNKPDIDAWELRKGINTLVTY
DMVPEPKIIDAALRACRRLNDFASTVRILEVVKDKAGPHKEIYPYVIQELRPTLNELGISTPEELGLDKV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000923191 CLINVAR
dbSNP (RS) rs773949037 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene COX5A CLINVAR
OMIM 603773 CLINVAR