Genomic variant #0001563626

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17480215T>C
Reference Copied from the Exome Variant Server
DB-ID PEMT_000049
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.93+19A>G r.(=) p.(=)