Search Ontology:
Sequence Ontology
splice_site_variant
- Term ID
- SO:0001629
- Synonyms
-
- essential_splice_site
- splice site variant
- VAT:spliceOverlap
- Definition
- 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. http://ensembl.org/info/docs/variation/index.html
- References
- Ontology
- Sequence Ontology