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- NCIT_C45390 IAO_0000115 "An inherited single base change at a donor splice site in a genomic DNA sequence that results in an allelic variant of the wild-type gene. Donor splice sites are located at exon to intron junctions at the 5' end of the intron." @default.
- NCIT_C45390 NCIT_A32 NCIT_C97926 @default.
- NCIT_C45390 NCIT_NHC0 "C45390" @default.
- NCIT_C45390 NCIT_P106 "Nucleotide Sequence" @default.
- NCIT_C45390 NCIT_P108 "Donor Splice Site SNP" @default.
- NCIT_C45390 NCIT_P207 "C1707808" @default.
- NCIT_C45390 NCIT_P322 "GDC" @default.
- NCIT_C45390 NCIT_P366 "Donor_Splice_Site_SNP" @default.
- NCIT_C45390 NCIT_P375 "Splice Donor Variant" @default.
- NCIT_C45390 normalizedInformationContent "100" @default.
- NCIT_C45390 referenceCount "1" @default.
- NCIT_C45390 hasExactSynonym "Donor Splice Site SNP" @default.
- NCIT_C45390 hasExactSynonym "Intronic, Donor Splice Site SNP" @default.
- NCIT_C45390 hasExactSynonym "Splice Donor Point Mutation" @default.
- NCIT_C45390 hasExactSynonym "Splice Donor Variant" @default.
- NCIT_C45390 hasExactSynonym "Splice Donor" @default.
- NCIT_C45390 inSubset NCIT_C157711 @default.
- NCIT_C45390 inSubset NCIT_C177537 @default.
- NCIT_C45390 type Class @default.
- NCIT_C45390 isDefinedBy ncit.owl @default.
- NCIT_C45390 label "Donor Splice Site SNP" @default.
- NCIT_C45390 subClassOf NCIT_C17004 @default.
- NCIT_C45390 subClassOf NCIT_C17248 @default.
- NCIT_C45390 subClassOf NCIT_C18279 @default.
- NCIT_C45390 subClassOf NCIT_C19896 @default.
- NCIT_C45390 subClassOf NCIT_C20181 @default.
- NCIT_C45390 subClassOf NCIT_C45387 @default.
- NCIT_C45390 subClassOf NCIT_C45390 @default.
- NCIT_C45390 subClassOf NCIT_C45574 @default.