OBO ID: SO:0001629
Term Name: splice_site_variant Search Ontology:
  • 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
Ontology: Sequence Ontology
PHENOTYPE No data available