Genomic variant #0000177776

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.217604506T>C
Reference Copied from the Exome Variant Server
DB-ID GPATCH2_000003
Frequency 3/13006
Freq. EA 3/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GPATCH2 NM_018040.2 ?/? c.1568A>G r.(?) p.(Asn523Ser)