Genomic variant #0000002809

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222519C>T
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000075
Frequency 8/12974
Freq. EA 0/8578
Freq. AA 8/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1150C>T r.(?) p.(Arg384*)