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- NCIT_C127869 IAO_0000115 "Human SMN2 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor neuron protein, is involved in the assembly of small nuclear ribonucleoproteins. Mutation of the gene is associated with sporadic adult-onset lower motor neuron disease (LMND) and a modified form of spinal muscular atrophy type 3." @default.
- NCIT_C127869 NCIT_NHC0 "C127869" @default.
- NCIT_C127869 NCIT_P100 "601627" @default.
- NCIT_C127869 NCIT_P102 "NM_017411" @default.
- NCIT_C127869 NCIT_P106 "Gene or Genome" @default.
- NCIT_C127869 NCIT_P107 "SMN2 wt Allele" @default.
- NCIT_C127869 NCIT_P108 "SMN2 wt Allele" @default.
- NCIT_C127869 NCIT_P208 "CL509024" @default.
- NCIT_C127869 NCIT_P321 "6607" @default.
- NCIT_C127869 NCIT_P322 "CTRP" @default.
- NCIT_C127869 NCIT_P98 "The SMN2 gene is part of a 500 kb inverted duplication on chromosome 5q13. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. (EntrezGene)" @default.
- NCIT_C127869 NCIT_R37 NCIT_C17106 @default.
- NCIT_C127869 NCIT_R37 NCIT_C17710 @default.
- NCIT_C127869 NCIT_R37 NCIT_C17828 @default.
- NCIT_C127869 NCIT_R37 NCIT_C18219 @default.
- NCIT_C127869 NCIT_R37 NCIT_C18469 @default.
- NCIT_C127869 NCIT_R37 NCIT_C18952 @default.
- NCIT_C127869 NCIT_R37 NCIT_C19325 @default.
- NCIT_C127869 NCIT_R37 NCIT_C19986 @default.
- NCIT_C127869 NCIT_R37 NCIT_C21049 @default.
- NCIT_C127869 NCIT_R37 NCIT_C21050 @default.
- NCIT_C127869 NCIT_R37 NCIT_C28498 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14182 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14225 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14234 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14250 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14262 @default.
- NCIT_C127869 NCIT_R41 NCIT_C14282 @default.
- NCIT_C127869 NCIT_R41 NCIT_C25796 @default.
- NCIT_C127869 NCIT_R41 NCIT_C79740 @default.
- NCIT_C127869 normalizedInformationContent "100" @default.
- NCIT_C127869 referenceCount "1" @default.
- NCIT_C127869 hasExactSynonym "BCD541" @default.
- NCIT_C127869 hasExactSynonym "C-BCD541" @default.
- NCIT_C127869 hasExactSynonym "GEMIN1" @default.
- NCIT_C127869 hasExactSynonym "SMN2 wt Allele" @default.
- NCIT_C127869 hasExactSynonym "SMNC" @default.
- NCIT_C127869 hasExactSynonym "Survival of Motor Neuron 2, Centromeric wt Allele" @default.
- NCIT_C127869 hasExactSynonym "Survival of Motor Neuron, Centromeric Copy Gene" @default.
- NCIT_C127869 hasExactSynonym "TDRD16B" @default.
- NCIT_C127869 hasExactSynonym "Tudor Domain Containing 16B Gene" @default.
- NCIT_C127869 inSubset NCIT_C116977 @default.
- NCIT_C127869 inSubset NCIT_C142799 @default.
- NCIT_C127869 inSubset NCIT_C142800 @default.
- NCIT_C127869 type Class @default.
- NCIT_C127869 isDefinedBy ncit.owl @default.
- NCIT_C127869 label "SMN2 wt Allele" @default.
- NCIT_C127869 subClassOf NCIT_C127867 @default.
- NCIT_C127869 subClassOf NCIT_C127869 @default.
- NCIT_C127869 subClassOf NCIT_C16612 @default.
- NCIT_C127869 subClassOf NCIT_C20194 @default.