splice_site_variant (RELEASE_2.4.4) |
|
|---|---|
| SO Accession: | SO:0001629 (SOWiki) |
| Definition: | A sequence variant that changes the first two or last two bases of an intron. |
| Synonyms: | essential_splice_site, splice site variant |
| DB Xrefs: | URL: http://uswest.ensembl.org/info/docs/variation/index.html |
| Parent: | intron_variant (SO:0001627) |
| Children: | splice_acceptor_variant (SO:0001574) |
| splice_donor_variant (SO:0001575) | |
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