人 USH2A (NM_007123) cDNA克隆

基本信息

Accession: NM_007123
基因名称: USH2A
基因别名: US2; RP39; USH2; dJ1111A8.1
基因描述: Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 1, mRNA.
种属: Human
CDS区长度: 4641 (查看编码区序列)
翻译后氨基酸长度: 1546 (查看氨基酸序列)
Transcript Variant: This variant (1) uses a different splice site in its 3' coding region when compared to variant 2. The resulting protein (isoform A) has a shorter and distinct C-terminus, compared to isoform B.

订购信息

产品编号 产品名称 载体 规格 价格
G163510 人 USH2A (NM_007123) 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 USH2A (NM_007123) cDNA克隆 transcript variant 1
人 USH2A (NM_206933) cDNA克隆 transcript variant 2

基因简介

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

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