Genomic variant #0000343099

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229991C>T
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000018
Frequency 22/12072
Freq. EA 0/8150
Freq. AA 22/3922
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.501C>T r.(=) p.(=)