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Panel-Ref® BRCA1/2 Germline Mutation Cocktail II

CBP90018

询价

索取COA

产品描述

产品数据库

Introduction
Description	主要包含BRCA1和BRCA2的SNV和indel，用于相关的试剂盒和Panel检测服务的质控。

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	50.00%	COSM3755559	chr17:41223094
BRCA1	Benign	Germline	NM_007300.4	c.4308T>C	p.S1436=	50.00%	COSM4416374	chr17:41234470
BRCA1	Benign	Germline	NM_007300.4	c.3548A>G	p.K1183R	50.00%	COSM148277	chr17:41244000
BRCA1	Benign	Germline	NM_007300.4	c.3113A>G	p.E1038G	50.00%	COSM3755562	chr17:41244435
BRCA1	Benign	Germline	NM_007300.4	c.2612C>T	p.P871L	50.00%	COSM148278	chr17:41244936
BRCA1	Benign	Germline	NM_007300.4	c.2311T>C	p.L771=	50.00%	COSM3755565	chr17:41245237
BRCA1	Benign	Germline	NM_007300.4	c.2082C>T	p.S694=	50.00%	N/A	chr17:41245466
BRCA1	Pathogenic	Germline	NM_007300.4	c.1961del	p.K654Sfs*47	50.00%	COSM219054	chr17:41245594
BRCA2	Benign	Germline	NM_000059.3	c.3396A>G	p.K1132=	50.00%	COSM4415775	chr13:32911888
BRCA2	Likely_benign	Germline	NM_000059.3	c.4314C>T	p.V1438=	50.00%	COSM2071377	chr13:32912806
BRCA2	Benign	Germline	NM_000059.3	c.4563A>G	p.L1521=	100.00%	COSM9180822	chr13:32913055
BRCA2	Benign	Germline	NM_000059.3	c.6513G>C	p.V2171=	100.00%	COSM4147689	chr13:32915005
BRCA2	Benign	Germline	NM_000059.3	c.7242A>G	p.S2414=	50.00%	COSM4415347	chr13:32929232
BRCA2	Conflicting_interpretations_of_pathogenicity	Germline	NM_000059.3	c.7397T>C	p.V2466A	100.00%	COSM7335572	chr13:32929387
定标方法：500x WES、DdPCR(部分位点)

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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