人 TMCO1 (NM_001256164) cDNA克隆

Accession: NM_001256164
基因名称: TMCO1
基因别名: PCIA3; TMCC4; HP10122; PNAS-136; RP11-466F5.7
基因描述: Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 618 (查看编码区序列)
翻译后氨基酸长度: 205 (查看氨基酸序列)
Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
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G105216 人 TMCO1 (NM_001256164) cDNA克隆 pDONR223 2ug质粒 点击询价

This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]