Genomic variant #0001208088

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53701866C>T
Reference Copied from the Exome Variant Server
DB-ID AAAS_000027
Frequency 6/13006
Freq. EA 6/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.1202G>A r.(?) p.(Arg401Gln)