LP435239-1
SLC1A4 gene targeted mutation analysis
Active
Description
The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017] Source: 3M Health Information Systems,
Basic Part Properties
- Part Display Name
- SLC1A4 gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-24
- Construct for LOINC Short Name
- SLC1A4 Mut Anl
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=LP435239-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright