Genomic variant #0000343094

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229884G>A
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000008
Frequency 4/12966
Freq. EA 0/8584
Freq. AA 4/4382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.394G>A r.(?) p.(Asp132Asn)