Genomic variant #0000623048

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13206160T>C
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000059
Frequency 1/12508
Freq. EA 0/8366
Freq. AA 1/4142
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.778T>C r.(?) p.(Ser260Pro)