PTEN p.R130Afs*51 Reference Standard

CBP10464

询价

索取COA

产品描述

产品数据库

Introduction
Gene	PTEN
Description	PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor (PMID: 30562755) with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN germline mutations are common in Cowden syndrome (PMID: 30562755) and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654).

Technical Data
DNA Change	c.386_387insCGCC
AA Change	p.R130Afs*51
Mutation type	Frame_Shift_Ins
Zygosity	Homozygous
Allelic Frequency	100.00%
Transcript	ENST00000371953.3
Cosmic ID	N/A
Chr position(GRCh37)	chr10:89692902_89692903
Buffer	Tris-EDTA

Product Information
Intended Use	Research Use Only
Unit Size	1ug
Concentration	Download for COA
Purofication	Download for COA
DNA electrophoresis	Download for COA
Sanger sequencing
Storage	2-8℃
Expiry	36 months from the date of manufacture

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• PTEN Deletion (39781bp Del with Exon 2-3 Del) Reference Standard • PTEN p.C124S Reference Standard • PTEN p.C136R Reference Standard • PTEN p.C136Y Reference Standard • PTEN p.K128_R130del Reference Standard • PTEN p.K6Rfs*4 Reference Standard • PTEN p.R130* Reference Standard • PTEN p.R130fs*4 Reference Standard • PTEN p.R130Q Reference Standard • PTEN p.R130R Reference Standard

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