SLC12A6 R1134* [plasma membrane]

Stable Identifier
R-HSA-5623808
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Solute carrier family 12 member 6, S12A6_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:Q9UHW9 SLC12A6
Gene Names
SLC12A6, KCC3
Chain
chain:1-1150
Reference Genes
BioGPS Gene:9990 SLC12A6
COSMIC (genes):SLC12A6 SLC12A6
CTD Gene:9990 SLC12A6
dbSNP Gene:9990 SLC12A6
ENSEMBL:ENSG00000140199 SLC12A6
HGNC:10914 SLC12A6
KEGG:hsa:9990 SLC12A6
Monarch:9990 SLC12A6
NCBI Gene:9990 SLC12A6
OMIM:604878 SLC12A6
UCSC:Q9UHW9 SLC12A6
Reference Transcript
Other Identifiers
11724323_a_at
11724324_a_at
11737894_a_at
16806870
220740_PM_s_at
220740_s_at
223596_PM_at
223596_at
226741_PM_at
226741_at
3617311
3617313
3617314
3617315
3617316
3617317
3617318
3617322
3617323
3617324
3617325
3617326
3617327
3617328
3617329
3617331
3617332
3617333
3617334
3617335
3617336
3617337
3617338
3617339
3617341
3617342
3617343
3617344
3617345
3617346
3617347
3617348
3617349
3617350
3617357
3617362
3617368
3617369
3617375
3617376
3617377
3617378
3617379
3617380
3617381
3617382
3617383
3617384
3617402
45662_at
7987192
9990
A_23_P65877
A_33_P3212112
GE56488
GE84975
GE85570
GO:0001525
GO:0005215
GO:0005886
GO:0006811
GO:0006813
GO:0006884
GO:0007268
GO:0015079
GO:0015293
GO:0015377
GO:0015379
GO:0016020
GO:0016323
GO:0019901
GO:0022857
GO:0023052
GO:0030424
GO:0045202
GO:0046872
GO:0055064
GO:0055075
GO:0055085
GO:0071333
GO:0071476
GO:0071477
GO:0071805
GO:1902476
GO:1990573
HMNXSV003019844
HMNXSV003053992
Hs.250905.2.A1_3p_at
ILMN_1682606
ILMN_1767992
ILMN_2266573
PH_hs_0000495
TC15001192.hg
g4826779_3p_a_at
Participates
as a member of
Other forms of this molecule
SLC12A6 [plasma membrane]
SLC12A6 R1011* [plasma membrane]
SLC12A6 T813fs*813 [plasma membrane]
SLC12A6 F529fs*532 [plasma membrane]
SLC12A6 R675* [plasma membrane]
Modified Residues
Name
Nonsense mutation at L-arginine 1134
Coordinate
1134
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name Identifier Synonyms
neuropathy DOID:870 peripheral neuropathy
Cross References
Guide to Pharmacology - Targets
973
OpenTargets
ENSEMBL
HPA
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
Cite Us!