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

Panel-Ref? BRCA1/2 Germline Mutation Cocktail I

CBP90003

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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
Cat No.	CBP90003
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	Chr position (GRCh37)
BRCA1	Benign?	germline	NM_007300.4	c.4837A>G	p.S1613G	50.00%	chr17:41223157
BRCA1	Benign?	germline	NM_007300.4	c.3548A>G	p.K1183R	50.00%	chr17:41244000
BRCA1	Benign?	germline	NM_007300.4	c.2612C>T	p.P871L	100.00%	chr17:41244936
BRCA1	Benign?	germline	NM_007300.4	c.2458A>G	p.K820E	50.00%	chr17:41245090
BRCA1	Benign	germline	NM_007300.4	c.2082C>T	p.S694S	50.00%	chr17:41245466
BRCA1	Uncertain significance?	germline	NM_007300.4	c.1303G>T	p.D435Y	50.00%	chr17:41246245
BRCA2	Benign?	germline	NM_000059.3	c.865A>C	p.N289H	50.00%	chr13:32906480
BRCA2	Benign?	germline	NM_000059.3	c.2229T>C	p.H743H	50.00%	chr13:32910721
BRCA2	Benign?	germline	NM_000059.3	c.2971A>G	p.N991D	50.00%	chr13:32911463
BRCA2	Benign?	germline	NM_000059.3	c.3516G>A	p.S1172S	50.00%	chr13:32912008
BRCA2	Benign?	germline	NM_000059.3	c.3807T>C	p.V1269V	50.00%	chr13:32912299
BRCA2	Benign?	germline	NM_000059.3	c.4563A>G	p.L1521L	100.00%	chr13:32913055
BRCA2	Pathogenic	germline	NM_000059.3	c.5345delA	p.N1784fs	50.00%	chr13:32913843
BRCA2	Benign?	germline	NM_000059.3	c.6513G>C	p.V2171V	100.00%	chr13:32915005
BRCA2	Benign?	germline	NM_000059.3	c.7397T>C	p.V2466A	100.00%	chr13:32929387
BRCA2	Uncertain Significance	germline	NM_000059.3	c.1365A>G	p.S455S	50.00%	chr13:32906980
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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