Genomic variant #0001344440

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77786864G>T
Reference Copied from the Exome Variant Server
DB-ID POMT2_000172
Frequency 362/12328
Freq. EA 3/8238
Freq. AA 359/4090
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.161C>A r.(?) p.(Ala54Glu)