Genomic variant #0000048532

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32673514G>C
Reference Copied from the Exome Variant Server
DB-ID IQCC_000055
Frequency 21/13006
Freq. EA 18/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.1232G>C r.(?) p.(Arg411Thr)