人 DFNB31 (NM_001083885) cDNA克隆

基本信息

Accession: NM_001083885
基因名称: DFNB31
基因别名: WI; WHRN; CIP98; USH2D; PDZD7B; RP11-9M16.1
基因描述: Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1575 (查看编码区序列)
翻译后氨基酸长度: 524 (查看氨基酸序列)
Transcript Variant: This variant (2) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.

订购信息

产品编号 产品名称 载体 规格 价格
G143591 人 DFNB31 (NM_001083885) 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 DFNB31 (NM_015404) cDNA克隆 transcript variant 1
人 DFNB31 (NM_001083885) cDNA克隆 transcript variant 2
人 DFNB31 (NM_001173425) cDNA克隆 transcript variant 3

基因简介

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

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