Genomic variant #0000094303

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.100336027C>T
Reference Copied from the Exome Variant Server
DB-ID AGL_000048
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     
AGL NM_000028.2 ?/? c.736C>T r.(?) p.(Pro246Ser)