Genomic variant #0000002824

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222690C>T
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000090
Frequency 504/12790
Freq. EA 461/8480
Freq. AA 43/4310
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+11C>T r.(=) p.(=)