Genomic variant #0000002829

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222728G>A
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000095
Frequency 2/12690
Freq. EA 0/8428
Freq. AA 2/4262
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1310+49G>A r.(=) p.(=)