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 |
PHENOTYPE
No data available