Genomic variant #0000002780

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222218A>T
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000046
Frequency 1/12986
Freq. EA 0/8586
Freq. AA 1/4400
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.982A>T r.(?) p.(Asn328Tyr)