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Gene : BSND Homo sapiens

Name  ? barttin CLCNK type accessory beta subunit Cytological Location  1p32.3
Brief Description  barttin CLCNK type accessory beta subunit
Description  This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
  • synonyms:
  • deafness, autosomal recessive 73,
  • BSND,
  • DFNB73,
  • AY034632,
  • HGNC:16512,
  • Bartter syndrome, infantile, with sensorineural deafness (Barttin),
  • OTTHUMG00000008112,
  • uc001cye.4,
  • BART,
  • NM_057176,
  • BART,
  • DFNB73
  • identifiers:
  • 7809,
  • ENSG00000162399,
  • BSND

Genome feature

Region: gene ? Length: 18240  
Location: 1:54998933-55017172 Cyto location: 1p32.3


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

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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

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Expression

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Other

621 SN Ps

5 Cross References

18 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results