Genomic variant #0000553024

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.65466443C>G
Reference Copied from the Exome Variant Server
DB-ID SREK1_000043
Frequency 2/13000
Freq. EA 0/8598
Freq. AA 2/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SREK1 NM_001077199.2 ?/? c.1152C>G r.(?) p.(Ile384Met)