人 SPATA7 (NM_001040428) cDNA克隆

Accession: NM_001040428
基因名称: SPATA7
基因别名: HSD3; LCA3; HSD-3.1
基因描述: Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1704 (查看编码区序列)
翻译后氨基酸长度: 567 (查看氨基酸序列)
Transcript Variant: This variant (2) is lacking an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) missing an internal protein segment compared to isoform 1.
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G109423 人 SPATA7 (NM_001040428) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]