Genomic variant #0000553020

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466045T>C
Reference Copied from the Exome Variant Server
DB-ID SREK1_000039
Frequency 250/12838
Freq. EA 224/8554
Freq. AA 26/4284
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.1121+47T>C r.(=) p.(=)