Genomic variant #0000781999

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.121758634G>A
Reference Copied from the Exome Variant Server
DB-ID AASS_000145
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     
AASS NM_005763.3 ?/? c.523C>T r.(?) p.(His175Tyr)