Genomic variant #0001208106

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.53702295C>T
Reference Copied from the Exome Variant Server
DB-ID AAAS_000045
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AAAS NM_001173466.1 ?/? c.1006G>A r.(?) p.(Val336Ile)