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首頁(yè) /診斷試劑 /遺傳性基因標準品 /地中海貧血 /β-thalassemia IVS-I-1(G>A)&IVS-I-6(T>C) double mutation Reference Standard

β-thalassemia IVS-I-1(G>A)&IVS-I-6(T>C) double mutation Reference Standard

CBPD0009

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產(chǎn)品描述

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Introduction
Format	Genomic DNA
Description	β-thalassemia (β-mediterraneananemia) refers to the A group of hemoglobinopathies in which synthesis is partially or completely inhibited.

Technical Data
Mutation 1	Variation site: IVS-I-1(G>A)
	DNA Change: c.92+1G>A
	Zygosity: Heterozygous
	Allelic Frequency: 50%
	Chr position(GRCh37): Chr11:5248159C>T
	Transcript: NM_000518.5
Mutation 2	Variation site: IVS-I-6(T>C)
	DNA Change: c.92+6T>C
	Zygosity: Heterozygous
	Allelic Frequency: 50%
	Chr position(GRCh37): Chr11:5248154A>G
	Transcript: NM_000518.5
Buffer	Tris-EDTA

Product Information
Intended Use	Research Use Only
Unit Size	1ug
Concentration	Download for COA
Purofication	Download for COA
DNA electrophoresis	Download for COA
Sanger sequencing	Figure 1. IVS-I-1(G>A) Heterozygous Figure 2. IVS-I-6(T>C) Heterozygous
Storage	2-8℃
Expiry	36 months from the date of manufacture

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