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首頁(yè) /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

產(chǎn)品描述
產(chǎn)品數據庫
Introduction
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(diǎn))
               
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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