Genomic variant #0001344421

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77771103T>G
Reference Copied from the Exome Variant Server
DB-ID POMT2_000156
Frequency 1/13004
Freq. EA 0/8598
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.479A>C r.(?) p.(Tyr160Ser)