人 SCN5A (NM_000335) cDNA克隆

基本信息

Accession: NM_000335
基因名称: SCN5A
基因别名: HB1; HB2; HH1; IVF; VF1; HBBD; ICCD; LQT3; SSS1; CDCD2; CMD1E; CMPD2; PFHB1; Nav1.5
基因描述: Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 2, mRNA.
种属: Human
CDS区长度: 6048 (查看编码区序列)
翻译后氨基酸长度: 2015 (查看氨基酸序列)
Transcript Variant: This variant (2) uses a different acceptor splice site at one of the coding exons, 3 nt downstream of that used by transcript variant 1. This results in an isoform (b) shorter by just a single aa, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G157538 人 SCN5A (NM_000335) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 SCN5A (NM_198056) cDNA克隆 transcript variant 1
人 SCN5A (NM_000335) cDNA克隆 transcript variant 2
人 SCN5A (NM_001099404) cDNA克隆 transcript variant 3
人 SCN5A (NM_001099405) cDNA克隆 transcript variant 4
人 SCN5A (NM_001160160) cDNA克隆 transcript variant 5
人 SCN5A (NM_001160161) cDNA克隆 transcript variant 6

基因简介

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

相关产品