人 SLC29A3 (NM_001174098) cDNA克隆

基本信息

Accession: NM_001174098
基因名称: SLC29A3
基因别名: ENT3; HJCD; PHID; HCLAP
基因描述: Homo sapiens solute carrier family 29 (equilibrative nucleoside transporter), member 3 (SLC29A3), transcript variant 2, mRNA.
种属: Human
CDS区长度: 777 (查看编码区序列)
翻译后氨基酸长度: 258 (查看氨基酸序列)
Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform b, which is shorter than isoform a.

订购信息

产品编号 产品名称 载体 规格 价格
G124345 人 SLC29A3 (NM_001174098) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 SLC29A3 (NM_018344) cDNA克隆 transcript variant 1
人 SLC29A3 (NM_001174098) cDNA克隆 transcript variant 2

基因简介

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

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