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Panel-Ref® BRCA1/2 Germline Mutation Cocktail II

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Panel-Ref® BRCA1/2 Germline Mutation Cocktail II

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产品编号
CBP90018
货号:
CBP90018
品牌:
Cobioer
规格:
1ug/vial * 1 vial
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Panel-Ref® BRCA1/2 Germline Mutation Cocktail II
Cat No. CBP90018
Description 主要包含BRCA1BRCA2SNVindel,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 4°C
Expiry 36 months from the date of manufacture
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