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首頁 /診斷試劑 /腫瘤標準品 /Panel /Panel-Ref? BRCA1/2 Germline Mutation Cocktail III

Panel-Ref? BRCA1/2 Germline Mutation Cocktail III

CBP90025

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索取COA

產(chǎn)品描述

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Introduction
專利	該產(chǎn)品開發(fā)基于我們<<一種用于DNA同源重組修復(fù)基因檢測的標準品及其制備方法>>專利轉(zhuǎn)化
Description	主要包含BRCA1和BRCA2的SNV和indel，用于相關(guān)的試劑盒和Panel檢測服務(wù)的質(zhì)控。

Gene	Clinical significance	Allele origin	MRNA	DNA Change	AA Change	%AF	Cosmic ID	Chr position (GRCh37)
BRCA1	Benign	Germline	NM_007300.4	c.4900A>G	p.S1634G	100.00%	COSM3755559	chr17:41223094
BRCA1	Benign	Germline	NM_007300.4	c.4308T>C	p.S1436=	100.00%	COSM4416374	chr17:41234470
BRCA1	Uncertain Significance	Germline	NM_007300.4	c.3569C>A	p.P1190H	50.00%	COSM3190048	chr17:41243979
BRCA1	Benign	Germline	NM_007300.4	c.3548A>G	p.K1183R	100.00%	COSM148277	chr17:41244000
BRCA1	Benign	Germline	NM_007300.4	c.3113A>G	p.E1038G	100.00%	COSM3755562	chr17:41244435
BRCA1	Benign	Germline	NM_007300.4	c.2612C>T	p.P871L	100.00%	COSM148278	chr17:41244936
BRCA1	Benign	Germline	NM_007300.4	c.2311T>C	p.L771=	100.00%	COSM3755565	chr17:41245237
BRCA1	Benign	Germline	NM_007300.4	c.2082C>T	p.S694=	100.00%	N/A	chr17:41245466
BRCA1	Uncertain Significance	Germline	NM_007300.4	c.1988G>A	p.S663N	50.00%	COSM3190090	chr17:41245560
BRCA2	Benign	Germline	NM_000059.3	c.865A>C	p.N289H	50.00%	COSM3999066	chr13:32906480
BRCA2	Uncertain Significance	Germline	NM_000059.3	c.1365A>G	p.S455=	50.00%	COSM3999068	chr13:32906980
BRCA2	Uncertain Significance	Germline	NM_000059.3	c.1460C>T	p.A487V	50.00%	N/A	chr13:32907075
BRCA2	Benign	Germline	NM_000059.3	c.2229T>C	p.H743=	50.00%	COSM5019762	chr13:32910721
BRCA2	Benign	Germline	NM_000059.3	c.2971A>G	p.N991D	50.00%	COSM4986759	chr13:32911463
BRCA2	Benign	Germline	NM_000059.3	c.3396A>G	p.K1132=	50.00%	COSM4415775	chr13:32911888
BRCA2	Pathogenic	Germline	NM_000059.3	c.3599_3600del	p.C1200*	50.00%	COSM18623	chr13:32912091
BRCA2	Benign	Germline	NM_000059.3	c.4068G>A	p.L1356=	50.00%	COSM9213155	chr13:32912560
BRCA2	Benign	Germline	NM_000059.3	c.4563A>G	p.L1521=	100.00%	COSM9180822	chr13:32913055
BRCA2	Pathogenic	Germline	NM_000059.3	c.5351del	p.N1784Tfs*7	50.00%	COSM18607	N/A
BRCA2	Benign	Germline	NM_000059.3	c.6513G>C	p.V2171=	100.00%	COSM4147689	chr13:32915005
BRCA2	Benign	Germline	NM_000059.3	c.7397T>C	p.V2466A	100.00%	COSM7335572	chr13:32929387
BRCA2	Likely Pathogenic	Germline	NM_000059.3	c.8351G>A	p.R2784Q	50.00%	N/A	chr13:32944558
定標方法：500x WES、DdPCR(部分位點)

Product Information
Intended Use	Research Use Only
Unit Size	1ug/vial * 1 vial
Concentration	Download for COA
Purity	Download for COA
DNA electrophoresis	Download for COA
Storage	2-8°C
Expiry	36 months from the date of manufacture

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