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Gene : BBS1 Homo sapiens

Name  ? Bardet-Biedl syndrome 1 Cytological Location  11q13.2
Brief Description  Bardet-Biedl syndrome 1
Description  Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
  • synonyms:
  • AF503941,
  • FLJ23590,
  • NM_024649,
  • OTTHUMG00000167110,
  • uc001oij.2,
  • HGNC:966,
  • BBS2L2,
  • BBS1
  • identifiers:
  • 582,
  • ENSG00000174483,
  • BBS1

Genome feature

Region: gene ? Length: 22964  
Location: 11:66510635-66533598 Cyto location: 11q13.2


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Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3756 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results