Genomic variant #0001208170

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53714469T>C
Reference Copied from the Exome Variant Server
DB-ID AAAS_000109
Frequency 2/13006
Freq. EA 0/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.131A>G r.(?) p.(Asn44Ser)