OBO ID: SO:0001629 |
Term Name: | splice_site_variant | Search Ontology: | |
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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 | ||
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Ontology: | Sequence Ontology |