Genomic variant #0000002792

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222333G>A
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000058
Frequency 9/12954
Freq. EA 8/8578
Freq. AA 1/4376
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1097G>A r.(?) p.(Arg366Gln)