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Gene : CANT1 Homo sapiens

Name  ? calcium activated nucleotidase 1 Cytological Location  17q25.3
Brief Description  calcium activated nucleotidase 1
Description  This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]
  • synonyms:
  • SCAN-1,
  • OTTHUMG00000177570,
  • CANT1,
  • HGNC:19721,
  • uc002jwj.4,
  • Soluble Ca-Activated Nucleotidase, isozyme 1,
  • DBQD,
  • SCAN-1,
  • NM_138793,
  • AJ312208,
  • SHAPY,
  • SCAN1,
  • SHAPY,
  • DBQD1,
  • EDM7
  • identifiers:
  • 124583,
  • ENSG00000171302,
  • CANT1

Genome feature

Region: gene ? Length: 18078  
Location: 17:78991716-79009793 reverse strand Cyto location: 17q25.3


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Function

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Genomics

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Proteins

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SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

858 SN Ps

5 Cross References

20 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results