Genomic variant #0001563609

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.17425639G>C
Reference Copied from the Exome Variant Server
DB-ID PEMT_000032
Frequency 7/13006
Freq. EA 0/8600
Freq. AA 7/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PEMT NM_007169.2 ?/? c.164C>G r.(?) p.(Ser55Cys)