Genomic variant #0001107049

Chromosome 11
DNA change (genomic) (Relative to hg19 / GRCh37) g.64811909C>T
Reference Copied from the Exome Variant Server
DB-ID SAC3D1_000024
Frequency 1/12472
Freq. EA 0/8372
Freq. AA 1/4100
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SAC3D1 NM_013299.3 ?/? c.787C>T r.(?) p.(Arg263Cys)