Genomic variant #0000553030

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466587C>A
Reference Copied from the Exome Variant Server
DB-ID SREK1_000049
Frequency 9/13000
Freq. EA 9/8596
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.1296C>A r.(?) p.(Asp432Glu)