- accession:NM_133335
- 基因别名:WHS; NSD2; TRX5; MMSET; REIIBP
- 基因描述:Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:4098
- 翻译后氨基酸长度:1365
- TranscriptVariant:This variant (3) lacks exons 2 and 3 in the 5' UTR, as compared to variant 1. It encodes the same isoform (1) as variants 1 and 2.
- 基因简介:This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
- 规格:10ul 质粒
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