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

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产品数据库

CBPD0009
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 4℃
Expiry 36 months from the date of manufacture

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