人 TMEM216 (NM_001173990) cDNA克隆

Accession: NM_001173990
基因名称: TMEM216
基因别名: HSPC244
基因描述: Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 2, mRNA.
种属: Human
CDS区长度: 438 (查看编码区序列)
翻译后氨基酸长度: 145 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site and initiates translation at an upstream start codon compared to variant 1. This variant also uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) has a longer N-terminus and lacks a short segment in the C-terminus, compared to isoform 1.
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G102773 人 TMEM216 (NM_001173990) cDNA克隆 pDONR223 2ug质粒 点击询价

This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]