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G6PD c.1376G>T Reference Standard

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  • CBPD0041/42/43/44

  • CBPD0041/42/43/44

Availability:


Description

G6PD (Glucose-6-Phosphate Dehydrogenase) is a Protein Coding gene. 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.Diseases associated with G6PD include Anemia, Nonspherocytic Hemolytic, Due To G6PD Deficiency and Malaria.  


General information

Cat.No. 

Name                

Format
               

Unit Size 

Intended Use 

Storage 

Expiry                

CBPD0041

G6PD c.1376G>T Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0042 

G6PD c.1388G>A Reference Standard

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0043

G6PD c.95A>G Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0044 

G6PD c.871G>A Reference Standard  

Genomic DNA

1ug

Research Use Only

2-8°C

36 months


Technical Data

Cat.No.                

Name        

Gene                

DNA Change                

AA Change  

Zygosity                

Allelic Frequency        

Chr position (GRCh37)            

CBPD0041

G6PD c.1376G>T Reference Standard

G6PD

NM_001042351.3:c.1376G>T      

p.Arg459Leu

Heterozygous   50%chrX:153760484C>A 

CBPD0042     

G6PD c.1388G>A Reference Standard

G6PD   

NM_001042351.3:c.1388G>A

p.Arg463His

Heterozygous

50%        

 ChrX:153760472G>A

CBPD0043

G6PD c.95A>G Reference Standard

G6PD 

NM_001042351.3:c.95A>G

p.His32Arg

Heterozygous

50%     ChrX:153774276A>G

CBPD0044    

G6PD c.871G>A Reference Standard

G6PD 

NM_001042351.3:c.871G>A

p.Val291Met

Heterozygous

50%  

ChrX:153761337G>A 



General information

Cat.No. 

Name                

Format
               

Unit Size 

Intended Use 

Storage 

Expiry                

CBPD0041

G6PD c.1376G>T Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0042 

G6PD c.1388G>A Reference Standard

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0043                

G6PD c.95A>G Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0044 

G6PD c.871G>A Reference Standard         

Genomic DNA

1ug

Research Use Only

2-8°C

36 months



Technical Data

Cat.No.

Name        

Gene

DNA Change

AA Change  

Zygosity

Allelic Frequency        

Chr position (GRCh37)            

CBPD0041

G6PD c.1376G>T Reference Standard

G6PD       

NM_001042351.3:c.1376G>T             

p.Arg459Leu

Heterozygous            50%chrX:153760484C>A 

CBPD0042           

G6PD c.1388G>A Reference Standard

G6PD   

NM_001042351.3:c.1388G>A

p.Arg463His

Heterozygous

50%     

 ChrX:153760472G>A

CBPD0043     

G6PD c.95A>G Reference Standard

G6PD 

NM_001042351.3:c.95A>G

p.His32Arg

Heterozygous

50%         ChrX:153774276A>G

CBPD0044             

G6PD c.871G>A Reference Standard                

G6PD 

NM_001042351.3:c.871G>A

p.Val291Met

Heterozygous

50%     

ChrX:153761337G>A 


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