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- NCIT_C45574 IAO_0000115 "An inherited single base substitution in a sequence of eukaryotic DNA located in either an acceptor (3' or downstream) or donor (5' or upstream) splice site of a gene. Functional single nucleotide polymorphisms in these intron-exon junctions can cause incorrect RNA splicing which, in turn, alters gene expression." @default.
- NCIT_C45574 NCIT_NHC0 "C45574" @default.
- NCIT_C45574 NCIT_P106 "Nucleotide Sequence" @default.
- NCIT_C45574 NCIT_P108 "Splice Site SNP" @default.
- NCIT_C45574 NCIT_P207 "C1711332" @default.
- NCIT_C45574 NCIT_P366 "Splice_Site_SNP" @default.
- NCIT_C45574 normalizedInformationContent "92.730304365937428" @default.
- NCIT_C45574 referenceCount "3" @default.
- NCIT_C45574 hasExactSynonym "Splice Site SNP" @default.
- NCIT_C45574 type Class @default.
- NCIT_C45574 isDefinedBy ncit.owl @default.
- NCIT_C45574 label "Splice Site SNP" @default.
- NCIT_C45574 subClassOf NCIT_C17004 @default.
- NCIT_C45574 subClassOf NCIT_C17248 @default.
- NCIT_C45574 subClassOf NCIT_C18279 @default.
- NCIT_C45574 subClassOf NCIT_C19896 @default.
- NCIT_C45574 subClassOf NCIT_C20181 @default.
- NCIT_C45574 subClassOf NCIT_C45387 @default.
- NCIT_C45574 subClassOf NCIT_C45574 @default.