PTEN p.R130fs*4 Reference Standard

CBP10121

询价

索取COA

产品描述

产品数据库

Introduction
Format	Genomic DNA
Description	PTEN R130fs results in a change in the amino acid sequence of the Pten protein beginning at aa 130 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R130fs has not been characterized, however, other C-terminal deletion mutants downstream of R130 are inactivating (PMID: 10468583), thus R130fs is predicted to lead to a loss of Pten protein function.

Technical Data
DNA Change:	c.389delG
AA Change	p.R130fs*4
Mutation type	Deletion - Frameshift
Zygosity	Homozygous
Allelic Frequency	100.00%
Transcript	ENST00000371953
Cosmic ID	COSM5817
Chr position(GRCh37)	chr10:89692905
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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