Genomic variant #0000086212

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.85136383_85136384insA
Reference Copied from the Exome Variant Server
DB-ID SSX2IP_000061
Frequency 1/12516
Freq. EA 1/8250
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SSX2IP NM_014021.3 ?/? c.158_159insT r.(?) p.(Ser54Glnfs*8)