Genomic variant #0001563637

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17480387C>T
Reference Copied from the Exome Variant Server
DB-ID PEMT_000060
Frequency 2/13004
Freq. EA 0/8600
Freq. AA 2/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.-15-46G>A r.(=) p.(=)