The MISO Sequence Ontology Browser (original) (raw)
| splice_region_variant (CURRENT_RELEASE) | |
|---|---|
| SO Accession: | SO:0001630 (SOWiki) |
| Definition: | A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron. |
| Synonyms: | ANNOVAR:splicing, snpEff:SPLICE_SITE_BRANCH, snpEff:SPLICE_SITE_BRANCH_U12, Jannovar:splice_region_variant, snpEff:SPLICE_SITE_REGION, splice region variant, VAAST:splice_region_variant, VEP:splice_region_variant |
| DB Xrefs: | URL:http://ensembl.org/info/docs/variation/index.html |
| Parent: | splicing_variant (SO:0001568) |
| Children: | splice_donor_region_variant (SO:0002170) |
| non_coding_transcript_splice_region_variant (SO:0002088) | |
| exonic_splice_region_variant (SO:0002084) |
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