Genomic variant #0000660315

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.44278717C>T
Reference Copied from the Exome Variant Server
DB-ID AARS2_000194
Frequency 117/13006
Freq. EA 0/8600
Freq. AA 117/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AARS2 NM_020745.2 ?/? c.749+14G>A r.(=) p.(=)