Genomic variant #0001200344

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50452728T>C
Reference Copied from the Exome Variant Server
DB-ID ASIC1_000008
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ASIC1 NM_020039.3 ?/? c.179T>C r.(?) p.(Val60Ala)