Genomic variant #0001344402

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77767443C>T
Reference Copied from the Exome Variant Server
DB-ID POMT2_000137
Frequency 7/13006
Freq. EA 0/8600
Freq. AA 7/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.806G>A r.(?) p.(Ser269Asn)