LP208415-2
SLC12A6 gene
Active
Description
The SLC12A6 gene (solute carrier family 12 member 6) [HGNC Gene ID:10914] is located on chromosome 15q13. This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:9990] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- SLC12A6 gene
- Part Display Name
- SLC12A6 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-03-17
- Construct for LOINC Short Name
- SLC12A6
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP208415-2
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | SLC12A6, gene Synonyms: Gene SLC12A6 |
| zh-CN | Chinese (China) | SLC12A6 基因 Synonyms: 溶质载体家族 12 成员 6; |
| es-ES | Spanish (Spain) | Gen SLC12A6 |
| nl-NL | Dutch (Netherlands) | SLC12A6-gen Synonyms: SLC12A6 gen |
| el-GR | Greek (Greece) | Γονίδιο SLC12A6 Synonyms: Γονίδιο SLC12A6 |
LOINC Copyright
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