人 B9D1 (NM_001243475) cDNA克隆

Accession: NM_001243475
基因名称: B9D1
基因别名: B9; MKS9; EPPB9; MKSR1
基因描述: Homo sapiens B9 protein domain 1 (B9D1), transcript variant 3, mRNA.
种属: Human
CDS区长度: 444 (查看编码区序列)
翻译后氨基酸长度: 147 (查看氨基酸序列)
Transcript Variant: This variant (3) is different on both the 5' and 3' ends, compared to variant 1. The resulting protein (isoform c) is shorter and with different termini when it is compared to isoform a.
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G113037 人 B9D1 (NM_001243475) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Three alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Aug 2011]