Genomic variant #0001344419

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77770993_77770994insG
Reference Copied from the Exome Variant Server
DB-ID POMT2_000154
Frequency 196/12178
Freq. EA 135/8040
Freq. AA 61/4138
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.547+41_547+42insC r.(=) p.(=)