Gene:
SLC12A3
solute carrier family 12 (sodium/chloride transporters), member 3

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the table.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

Variant?
(138)
Alternate Names / Tag SNPs ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA
rs13306673 10515130C>T, 283-51C>T, 283-54C>T, 56900931C>T, 6813C>T, TSC C1784T
C > T
Intronic
No VIP available No Clinical Annotations available VA
rs1529927 10469G>G, 10518786C>G, 56904587C>G, 788G>G, 791G>G, Gly263=, Gly264=
C > G
Not Available
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 138

Overview

Alternate Names:  None
Alternate Symbols:  NCCT
PharmGKB Accession Id: PA321

Details

Cytogenetic Location: chr16 : q13 - q13
GP mRNA Boundary: chr16 : 56899119 - 56949762
GP Gene Boundary: chr16 : 56889119 - 56952762
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Diuretics Pathway, Pharmacodynamics
    Diagrammatic representation of candidate genes involved in the pharmacodynamics of diuretics in a stylized kidney cell.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this gene. To report a pathway, click here.

Curated Information ?

Evidence Gene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
NEDD4L
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
STK39
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
WNK3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
WNK4

Curated Information ?

Evidence Drug Class
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
Thiazides, plain

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Essential hypertension

Publications related to SLC12A3: 7

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
WNK kinases and the kidney. Experimental cell research. 2012. Hoorn Ewout J, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Association of Hypertension Drug Target Genes With Blood Pressure and Hypertension in 86 588 Individuals. Hypertension. 2011. Johnson Andrew D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The genetics of loop diuretic effects. The pharmacogenomics journal. 2010. Vormfelde S V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation. PloS one. 2009. Hesselson Stephanie E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic predictors of glucocorticoid-induced hypertension in children with acute lymphoblastic leukemia. Pharmacogenetics and genomics. 2008. Kamdem Landry K, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clinical pharmacology and therapeutics. 2007. Vormfelde S V, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
The thiazide-sensitive Na(+)-Cl(-) cotransporter gene, C1784T, and adrenergic receptor-beta3 gene, T727C, may be gene polymorphisms susceptible to the antihypertensive effect of thiazide diuretics. Hypertension research : official journal of the Japanese Society of Hypertension. 2004. Matayoshi Tetsutaro, et al. PubMed

LinkOuts

Entrez Gene:
6559
OMIM:
263800
600968
UCSC Genome Browser:
NM_000339
RefSeq RNA:
NM_000339
NM_001126107
NM_001126108
RefSeq Protein:
NP_000330
NP_001119579
NP_001119580
MutDB:
SLC12A3
HuGE:
SLC12A3
Comparative Toxicogenomics Database:
6559
HumanCyc Gene:
HS01018
HGNC:
10912

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