Genomic variant #0000343092

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229860C>G
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000005
Frequency 5/12916
Freq. EA 4/8556
Freq. AA 1/4360
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.370C>G r.(?) p.(Pro124Ala)