splice_site_variant SO_0001629
splice_site_variant
ID: SO_0001629
Class
A sequence variant that changes the first two or last two bases of an intron, or the 5th base from the start of the intron in the orientation of the transcript.
EBI term - essential splice site - In the first 2 or the last 2 base pairs of an intron. The 5th base is on the donor (5') side of the intron. Updated to b in line with Cancer Genome Project at the Sanger.
Open in VFB 3D Browser →Classification
Alternative Names
| Synonym | Scope | Reference |
|---|---|---|
| essential_splice_site | exact synonym | //ensembl.org/info/docs/variation/index.html |
| VAT:spliceOverlap | exact synonym | VAR |
| splice site variant | exact synonym |