Genomic variant #0000002805

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222505G>A
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000071
Frequency 1/12970
Freq. EA 1/8580
Freq. AA 0/4390
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1136G>A r.(?) p.(Gly379Asp)