Genomic variant #0001200417

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50475195G>A
Reference Copied from the Exome Variant Server
DB-ID ASIC1_000081
Frequency 1/12430
Freq. EA 0/8214
Freq. AA 1/4216
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ASIC1 NM_020039.3 ?/? c.1620+48G>A r.(=) p.(=)