Genomic variant #0000552991

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65449438T>C
Reference Copied from the Exome Variant Server
DB-ID SREK1_000010
Frequency 1/11886
Freq. EA 0/8210
Freq. AA 1/3676
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.295+14T>C r.(=) p.(=)