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

• http://vat.gersteinlab.org/formats.php

Ontology

Sequence Ontology