Genomic variant #0001344438

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77786859C>A
Reference Copied from the Exome Variant Server
DB-ID POMT2_000168
Frequency 1/12374
Freq. EA 1/8258
Freq. AA 0/4116
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.166G>T r.(?) p.(Gly56Cys)