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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. BSND, Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Sequence ID:NM_057176
RefSeqGene ID:NG_008965
Entrez Gene ID:7809
Ensembl ID:ENSG00000162399

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssemblies

Gene Expression Data


Cytogenetic Location (from UniGene)

Cytogenetic Location:1p32.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 55464616 - 55474465

NM_057176 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
14205546461655465035
4215155547069455470788
5167915547266955472944
79213695547388655474463

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
40005137Full LengthBC103898Bartter syndrome, infantile, with sensorineural deafness (Barttin)
40005138Full LengthBC103899Bartter syndrome, infantile, with sensorineural deafness (Barttin)
40005139Full LengthBC103900Bartter syndrome, infantile, with sensorineural deafness (Barttin)

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_057176 NP_476517 Q5VU50
Q8WZ55
 

Related Sequences

 
mRNAGenPeptSwissProt
BC103898 AAI03899 Q5VU50
Q8WZ55
BC103899 AAI03900 Q5VU50
Q8WZ55
BC103900 AAI03901 Q5VU50
Q8WZ55
AY034632 AAK57750 Q5VU50
Q8WZ55

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BSND NP_476517 M.musculus Bsnd 140475 Gene Info NP_536706 74
R.norvegicus Bsnd 192675   NP_620435 73

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)