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- NCIT_C184298 IAO_0000115 "A nucleotide substitution at position 1100 of the coding sequence of the HSD3B1 gene where adenine has been mutated to cytosine." @default.
- NCIT_C184298 NCIT_NHC0 "C184298" @default.
- NCIT_C184298 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C184298 NCIT_P107 "HSD3B1 (1245C) Mutation" @default.
- NCIT_C184298 NCIT_P108 "HSD3B1 NM_000862.2:c.1100=" @default.
- NCIT_C184298 NCIT_P208 "CL1772603" @default.
- NCIT_C184298 NCIT_P315 "rs1047303" @default.
- NCIT_C184298 NCIT_P322 "CTRP" @default.
- NCIT_C184298 NCIT_P400 "620577" @default.
- NCIT_C184298 NCIT_P98 "For the HSD3B1 gene, adenine at position 1100 is the most frequent allele across all demographics; however, the RefSeq genomic sequence (NM_000862.2; GRCh38.p13) has cytosine at position 1100." @default.
- NCIT_C184298 NCIT_R177 NCIT_C114367 @default.
- NCIT_C184298 NCIT_R177 NCIT_C16612 @default.
- NCIT_C184298 NCIT_R177 NCIT_C21281 @default.
- NCIT_C184298 NCIT_R177 NCIT_C25939 @default.
- NCIT_C184298 NCIT_R177 NCIT_C25941 @default.
- NCIT_C184298 NCIT_R178 NCIT_C184297 @default.
- NCIT_C184298 NCIT_R178 NCIT_C184299 @default.
- NCIT_C184298 NCIT_R178 NCIT_C3910 @default.
- NCIT_C184298 NCIT_R178 NCIT_C97926 @default.
- NCIT_C184298 NCIT_R178 NCIT_C97928 @default.
- NCIT_C184298 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C184298 referenceCount "2" @default.
- NCIT_C184298 hasExactSynonym "3BETAHSD c.1100=" @default.
- NCIT_C184298 hasExactSynonym "HSD3B c.1100=" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 (1245A>C)" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 (1245C) Mutation" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 (1245C)" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 1245A>C" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 1245C" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 NM_000862.2:c.1100=" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1 c.1100C=" @default.
- NCIT_C184298 hasExactSynonym "HSD3B1(1245C)" @default.
- NCIT_C184298 hasExactSynonym "HSDB3 c.1100=" @default.
- NCIT_C184298 hasExactSynonym "HSDB3A c.1100=" @default.
- NCIT_C184298 hasExactSynonym "Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1 c.1100=" @default.
- NCIT_C184298 hasExactSynonym "NM_000862.2:c.1100=" @default.
- NCIT_C184298 hasExactSynonym "SDR11E1 c.1100=" @default.
- NCIT_C184298 inSubset NCIT_C116977 @default.
- NCIT_C184298 inSubset NCIT_C142799 @default.
- NCIT_C184298 inSubset NCIT_C142800 @default.
- NCIT_C184298 type Class @default.
- NCIT_C184298 isDefinedBy ncit.owl @default.
- NCIT_C184298 label "HSD3B1 NM_000862.2:c.1100=" @default.
- NCIT_C184298 subClassOf B00067cfdfa5f3c19bc1238b648b54469 @default.
- NCIT_C184298 subClassOf B07545d36c8d2a4c108f26c8460dd0f15 @default.
- NCIT_C184298 subClassOf NCIT_C184296 @default.
- NCIT_C184298 subClassOf NCIT_C184298 @default.
- NCIT_C184298 subClassOf NCIT_C36391 @default.
- NCIT_C184298 subClassOf NCIT_C3910 @default.
- NCIT_C184298 subClassOf NCIT_C97926 @default.
- NCIT_C184298 subClassOf NCIT_C97927 @default.