Genomic variant #0001344425

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77771189T>C
Reference Copied from the Exome Variant Server
DB-ID POMT2_000160
Frequency 3/12890
Freq. EA 0/8528
Freq. AA 3/4362
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.439-46A>G r.(=) p.(=)