Genomic variant #0001563623

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17480187A>G
Reference Copied from the Exome Variant Server
DB-ID PEMT_000046
Frequency 3275/13006
Freq. EA 844/8600
Freq. AA 2431/4406
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+47T>C r.(=) p.(=)