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SEQUENCE ONTOLOGY - ANNOTATIONS

The Sequence Types and Features Ontology (SO) is downloaded weekly from the SourceForge CVS repository at http://song.cvs.sourceforge.net/viewvc/song/ontology/. For more information about this ontology, see the Sequence Ontology Home Page at http://www.sequenceontology.org/.

Term:splice_site_variant
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Accession:SO:0001629 term browser browse the term
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.
Comment:EBI term - essential splice site - In the first 2 or the last 2 base pairs of an intron. The 5th base is on the donor (5') side of the intron. Updated to b in line with Cancer Genome Project at the Sanger.
Synonyms:exact_synonym: VAT:spliceOverlap;   essential_splice_site;   splice site variant
 xref: http://vat.gersteinlab.org/formats.php "VAT"


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Term paths to the root
Path 1
Term Annotations click to browse term
  SO ontology 0
    sequence_variant 0
      structural_variant 0
        feature_variant 0
          gene_variant 0
            transcript_variant 0
              intron_variant 0
                splice_site_variant 0
                  splice_acceptor_variant + 0
                  splice_donor_5th_base_variant 0
                  splice_donor_variant + 0
paths to the root