OBO ID: SO:0001629

Term Name:	splice_site_variant		Search Ontology:
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:	http://vat.gersteinlab.org/formats.php
Ontology:	Sequence Ontology