Search Ontology:
Sequence Ontology
splice_region_variant
- Term ID
- SO:0001630
- Synonyms
-
- ANNOVAR:splicing
- Jannovar:splice_region_variant
- snpEff:SPLICE_SITE_BRANCH
- Definition
- A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. http://ensembl.org/info/docs/variation/index.html
- References
- Ontology
- Sequence Ontology