Genomic variant #0000343089

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229805C>A
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000002
Frequency 1/11754
Freq. EA 0/7804
Freq. AA 1/3950
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.315C>A r.(=) p.(=)