Genomic variant #0001344383

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77762578G>A
Reference Copied from the Exome Variant Server
DB-ID POMT2_000118
Frequency 10/13006
Freq. EA 0/8600
Freq. AA 10/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.1045C>T r.(?) p.(Arg349Trp)