人 EFHC1 (NM_001172420) cDNA克隆

基本信息

Accession: NM_001172420
基因名称: EFHC1
基因别名: dJ304B14.2
基因描述: Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant C, mRNA.
种属: Human
CDS区长度: 1866 (查看编码区序列)
翻译后氨基酸长度: 621 (查看氨基酸序列)
Transcript Variant: This variant (C) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant A. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G112527 人 EFHC1 (NM_001172420) 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 EFHC1 (NM_018100) cDNA克隆 transcript variant A
人 EFHC1 (NM_001172420) cDNA克隆 transcript variant C

基因简介

This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

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