Genomic variant #0000177847

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.217804208G>T
Reference Copied from the Exome Variant Server
DB-ID GPATCH2_000074
Frequency 800/12948
Freq. EA 46/8568
Freq. AA 754/4380
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GPATCH2 NM_018040.2 ?/? c.56+50C>A r.(=) p.(=)