Genomic variant #0001344365

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77753225T>C
Reference Copied from the Exome Variant Server
DB-ID POMT2_000100
Frequency 7/4566
Freq. EA 0/3182
Freq. AA 7/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.1254-60A>G r.(=) p.(=)