Genomic variant #0000623059

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13228130A>G
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000071
Frequency 2/12140
Freq. EA 0/8276
Freq. AA 2/3864
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.1069A>G r.(?) p.(Met357Val)