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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_donor_variant
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Accession:SO:0001575 term browser browse the term
Definition:A splice variant that changes the 2 base pair region at the 5' end of an intron.
Synonyms:exact_synonym: Jannovar:splice_donor_variant;   Seattleseq:splice-donor;   VAAST:splice_donor_variant;   VEP:splice_donor_variant;   snpEff:SPLICE_SITE_DONOR;   splice donor variant
 xref: http://snp.gs.washington.edu/SeattleSeqAnnotation137/HelpHowToUse.jsp "Seattleseq";   http://snpeff.sourceforge.net/SnpEff_manual.html;   http:www.ensembl.org/info/genome/variation/predicted_data.html#consequences


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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_donor_variant 0
                    splice_donor_variant_NMD_escaping 0
                    splice_donor_variant_NMD_triggering 0
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