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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. SLC12A1, solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Sequence ID:NM_000338
NM_001184832
RefSeqGene ID:NG_021301
Entrez Gene ID:6557
Ensembl ID:ENSG00000074803

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BARTTER SYNDROME, TYPE 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:15q15-q21.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:Unknown

 Exon Info From UCSC:
NM_000338
NM_001184832

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100062525Full LengthBC156819solute carrier family 12 (sodium/potassium/chloride transporters), member 1
100015620BC148651solute carrier family 12 (sodium/potassium/chloride transporters), member 1

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000338 NP_000329 Q13621 AA_permease
AA_permease_N
NM_001184832 NP_001171761    

Related Sequences

 
mRNAGenPeptSwissProt
U58130 AAB07364 Q13621
BC040138 AAH40138 Q8IUN5
BC148651 AAI48652 Q13621
BC156819 AAI56820  
EF559316 ABU69043 Q13621
AB032525 BAA84574 O76029
AB032527 BAA84576 O76030
AK129998 BAC85271 Q6ZP54
AK295375 BAG58334 B4DI22
AK298275 BAG60536 B4DPC4
AK298312 BAG60566 B4DPF4

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 SLC12A1 NP_000329 M.musculus Slc12a1 20495 Gene Info NP_899197 94
R.norvegicus Slc12a1 25065   NP_062007 94
C.elegans nkcc-1 3565648   NP_001076724 48

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