Genomic variant #0000177795

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.217665070C>T
Reference Copied from the Exome Variant Server
DB-ID GPATCH2_000022
Frequency 1/13004
Freq. EA 0/8600
Freq. AA 1/4404
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GPATCH2 NM_018040.2 ?/? c.1229G>A r.(?) p.(Arg410Gln)