Genomic variant #0001563598

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17412702C>T
Reference Copied from the Exome Variant Server
DB-ID PEMT_000021
Frequency 4/13006
Freq. EA 0/8600
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.467+46G>A r.(=) p.(=)