Genomic variant #0001344384

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77762580A>G
Reference Copied from the Exome Variant Server
DB-ID POMT2_000119
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     
POMT2 NM_013382.5 ?/? c.1043T>C r.(?) p.(Leu348Pro)