OBO ID: SO:0001629
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Term Name: splice_site_variant Search Ontology:
Synonyms:
  • essential_splice_site
  • splice site variant
  • VAT:spliceOverlap
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
References:
Ontology: Sequence Ontology
Relationships
is a type of:
has subtype:
PHENOTYPE No data available