Genomic variant #0001563616

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17425684C>T
Reference Copied from the Exome Variant Server
DB-ID PEMT_000039
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.119G>A r.(?) p.(Arg40His)