人 FLCN (NM_144606) cDNA克隆

Accession: NM_144606
基因名称: FLCN
基因别名: BHD; FLCL
基因描述: Homo sapiens folliculin (FLCN), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1029 (查看编码区序列)
翻译后氨基酸长度: 342 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, as compared to variant 1. Isoform 2 has a shorter and distinct C-terminus, as compared to isoform 1.
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G106034 人 FLCN (NM_144606) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]