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- NCIT_C117249 IAO_0000115 "Human HERC2 wild-type allele is located in the vicinity of 15q13 and is approximately 211 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HERC2 protein, plays a role in the modulation of both DNA repair and protein ubiquitination. Variation in the gene defines the skin/hair/eye pigmentation variation locus 1, and mutation of the gene is associated with autosomal recessive mental retardation 38." @default.
- NCIT_C117249 NCIT_NHC0 "C117249" @default.
- NCIT_C117249 NCIT_P100 "605837" @default.
- NCIT_C117249 NCIT_P102 "AF071172" @default.
- NCIT_C117249 NCIT_P106 "Gene or Genome" @default.
- NCIT_C117249 NCIT_P108 "HERC2 wt Allele" @default.
- NCIT_C117249 NCIT_P207 "C3890555" @default.
- NCIT_C117249 NCIT_P321 "8924" @default.
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- NCIT_C117249 NCIT_R41 NCIT_C14234 @default.
- NCIT_C117249 NCIT_R41 NCIT_C14250 @default.
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- NCIT_C117249 NCIT_R41 NCIT_C14282 @default.
- NCIT_C117249 NCIT_R41 NCIT_C25796 @default.
- NCIT_C117249 NCIT_R41 NCIT_C79740 @default.
- NCIT_C117249 normalizedInformationContent "100" @default.
- NCIT_C117249 referenceCount "1" @default.
- NCIT_C117249 hasExactSynonym "D15F37S1" @default.
- NCIT_C117249 hasExactSynonym "HECT Domain and RCC1-Like Domain 2 Gene" @default.
- NCIT_C117249 hasExactSynonym "HECT and RLD Domain Containing E3 Ubiquitin Protein Ligase 2 wt Allele" @default.
- NCIT_C117249 hasExactSynonym "HERC2 wt Allele" @default.
- NCIT_C117249 hasExactSynonym "Hect Domain and RLD 2 Gene" @default.
- NCIT_C117249 hasExactSynonym "MRT38" @default.
- NCIT_C117249 hasExactSynonym "SHEP1" @default.
- NCIT_C117249 hasExactSynonym "jdf2" @default.
- NCIT_C117249 hasExactSynonym "p528" @default.
- NCIT_C117249 type Class @default.
- NCIT_C117249 isDefinedBy ncit.owl @default.
- NCIT_C117249 label "HERC2 wt Allele" @default.
- NCIT_C117249 subClassOf Bba1478aaee17ceadca6d3d09c8ca7a51 @default.
- NCIT_C117249 subClassOf Bebe28f145a8dcf67b26c31ddb7bcbbef @default.
- NCIT_C117249 subClassOf NCIT_C117247 @default.
- NCIT_C117249 subClassOf NCIT_C117249 @default.
- NCIT_C117249 subClassOf NCIT_C133710 @default.
- NCIT_C117249 subClassOf NCIT_C16612 @default.
- NCIT_C117249 subClassOf NCIT_C21281 @default.
- NCIT_C117249 subClassOf NCIT_C25870 @default.