Genomic variant #0000553027

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466574_65466575insT
Reference Copied from the Exome Variant Server
DB-ID SREK1_000046
Frequency 110/12508
Freq. EA 71/8246
Freq. AA 39/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.1283_1284insT r.(?) p.(Lys429Glnfs*14)