splice_site_variant (CURRENT_SVN) |
|
|---|---|
| SO Accession: | SO:0001629 (SOWiki) |
| 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. |
| Synonyms: | essential_splice_site, splice site variant, VAT:spliceOverlap |
| DB Xrefs: | URL: http://ensembl.org/info/docs/variation/index.html |
| Parents: | intron_variant (SO:0001627) |
| splicing_variant (SO:0001568) | |
| Children: | splice_acceptor_variant (SO:0001574) |
| splice_donor_variant (SO:0001575) | |
| splice_donor_5th_base_variant (SO:0001787) | |
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