人 NSUN5 (NM_001168348) cDNA克隆

Accession: NM_001168348
基因名称: NSUN5
基因别名: NOL1; p120; NOL1R; NSUN5A; WBSCR20; WBSCR20A
基因描述: Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 4, mRNA.
种属: Human
CDS区长度: 1176 (查看编码区序列)
翻译后氨基酸长度: 391 (查看氨基酸序列)
Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and includes an alternate segment in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
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G111344 人 NSUN5 (NM_001168348) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]