人 CC2D2A (NM_020785) cDNA克隆

基本信息

Accession: NM_020785
基因名称: CC2D2A
基因别名: MKS6; JBTS9
基因描述: Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 2, mRNA.
种属: Human
CDS区长度: 369 (查看编码区序列)
翻译后氨基酸长度: 122 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region that results in a frameshift, and differs in the presence and absence of exons at its 3' end, compared to variant 1. The encoded isoform (b) has a distinct and significantly shorter C-terminus, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G156553 人 CC2D2A (NM_020785) 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 CC2D2A (NM_001080522) cDNA克隆 transcript variant 1
人 CC2D2A (NM_020785) cDNA克隆 transcript variant 2
人 CC2D2A (NM_001164720) cDNA克隆 transcript variant 3

基因简介

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

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