Genomic variant #0000343087

Chromosome 3
DNA change (genomic) (Relative to hg19 / GRCh37) g.5229607C>G
Reference Copied from the Exome Variant Server
DB-ID EDEM1_000021
Frequency 3/12944
Freq. EA 0/8578
Freq. AA 3/4366
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
EDEM1 NM_014674.2 ?/? c.117C>G r.(=) p.(=)