Genomic variant #0000002761

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1221564C>T
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000027
Frequency 39/12902
Freq. EA 0/8554
Freq. AA 39/4348
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.817C>T r.(?) p.(Arg273Cys)