Genomic variant #0000298519

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.182852631A>G
Reference Copied from the Exome Variant Server
DB-ID PPP1R1C_000013
Frequency 1/12080
Freq. EA 0/8270
Freq. AA 1/3810
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPP1R1C NM_001080545.2 ?/? c.142+5A>G r.spl? p.?