Category:SO:0001629 ! splice site variant

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DAG for SO:0001629id: SO:0001629
name: splice_site_variant
def: "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." [1]
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.
synonym: "essential_splice_site" EXACT ebi_variants [2]
synonym: "splice site variant" EXACT []
is_a: SO:0001627 ! intron_variant
created_by: kareneilbeck
creation_date: 2010-03-24T09:42:00Z

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