Genomic variant #0001563582

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17409125C>T
Reference Copied from the Exome Variant Server
DB-ID PEMT_000005
Frequency 36/13006
Freq. EA 31/8600
Freq. AA 5/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.580G>A r.(?) p.(Gly194Arg)