Genomic variant #0000048533

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.32673516A>C
Reference Copied from the Exome Variant Server
DB-ID IQCC_000058
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
IQCC NM_018134.2 ?/? c.1234A>C r.(?) p.(Ser412Arg)