PrimePCR™ ddPCR™ Copy Number Assay: G6PD, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Fluorophore:   FAM
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Assay Information

Technology:   ddPCR
Assay Type   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP1000137
Chromosome Location:   X: 153774343-153774465question
Amplicon Length:   67
Reference Assays   AP3B1(dHsaCP1000001) , EIF2C1(dHsaCP1000002) , RPP30(dHsaCP1000485) , TERT(dHsaCP1000100)
Restriction Enzymes   HaeIII

Gene Information

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD mostly produced from missense mutations have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice acute hemolysis or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   G6PD
Gene Name:   glucose-6-phosphate dehydrogenase
Aliases:   G6PD1
RefSeq:   NC_000023.10 NG_009015.1 NG_009896.1 NT_167198.1
Ensembl:   ENSG00000160211
Entrez:   2539
UniGene:   Hs.461047
Chromosome Mapping   Xq28

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX100
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download
10033171 Instruction Manual, PrimePCR ddPCR Copy Number Variation (CNV) Assays, Rev A Click to download
10033487 PrimePCR ddPCR Mutation Detection Assays Product Insert, Rev B Click to download
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