Version 2.78

Description

The SCN1A gene (sodium channel, voltage gated, type I alpha subunit) [HGNC Gene ID:10585] is located on chromosome 2q24.3. The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.[provided by RefSeq, Jan 2011] [NCBI Gene ID:6323] Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
SCN1A gene.c.603-91G>A
Part Type
Component (Describes the core component or analyte measured)
Created On
2020-01-30
Construct for LOINC Short Name
SCN1A c.603-91G>A

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP417577-6

Language Variants Get Info

Tag Language Translation
nl-NL Dutch (Netherlands) SCN1A-gen c.603-91G>A
zh-CN Chinese (China) SCN1A 基因.c.603-91G>A
it-IT Italian (Italy) SCN1A, gene.c.603-91G>A
es-ES Spanish (Spain) Gen SCN1A c. 603-91G> A