人 AHI1 (NM_001134832) cDNA克隆

基本信息

Accession: NM_001134832
基因名称: AHI1
基因别名: ORF1; AHI-1; JBTS3; dJ71N10.1
基因描述: Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 4, mRNA.
种属: Human
CDS区长度: 3162 (查看编码区序列)
翻译后氨基酸长度: 1053 (查看氨基酸序列)
Transcript Variant: This variant (4) differs in the 5' UTR and the 3' coding region, compared to variant 1. The resulting isoform (b) contains a distinct C-terminus, compared to isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G155099 人 AHI1 (NM_001134832) 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 AHI1 (NM_001134831) cDNA克隆 transcript variant 1
人 AHI1 (NM_017651) cDNA克隆 transcript variant 2
人 AHI1 (NM_001134830) cDNA克隆 transcript variant 3
人 AHI1 (NM_001134832) cDNA克隆 transcript variant 4

基因简介

This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

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