- accession:NM_001202435
- 基因别名:SCN1A
- 基因描述:Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.
- 载体:现货载体
- CDS区长度:6030
- 翻译后氨基酸长度:2009
- TranscriptVariant:This variant (4) represents a transcript with 5' untranslated exons, compared to variant 1. The RefSeq Project created this record to better support clinical studies but the exact combination of exons and splice sites still needs to be experimentally confirmed. Variants 1 and 4 encode the same isoform.
- 基因简介: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]
- 规格:10ul 质粒
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