Genomic variant #0001200406

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50475004C>T
Reference Copied from the Exome Variant Server
DB-ID ASIC1_000070
Frequency 1/12908
Freq. EA 1/8542
Freq. AA 0/4366
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ASIC1 NM_020039.3 ?/? c.1516-39C>T r.(=) p.(=)