Genomic variant #0000553039

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466763G>A
Reference Copied from the Exome Variant Server
DB-ID SREK1_000058
Frequency 1/13004
Freq. EA 1/8600
Freq. AA 0/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.1472G>A r.(?) p.(Arg491His)