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MMACHC Reference Standard

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  • CBPD0032/33/34/35/36/37

  • CBPD0032/33/34/35/36/37

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Description

Methylmalonic acidemia (MMA) is a lethal, severe heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism with poor prognosis. Two main forms of the disease have been identified, isolated methylmalonic acidurias and combined methylmalonic aciduria and homocystinuria, which is respectively caused by different gene mutations. 


General information

Cat.No.                

Name                

Format
               

Unit Size                

Intended Use                

Storage                

Expiry                

CBPD0037

MMACHC c.609G>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0032                

MMAA c.503del Reference Standard

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0033                

MMAA c.650T>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0034                

MMUT c.323G>A Reference Standard                

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0035                

MMUT c.1106G>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0036                

MMUT c.729_730insTT 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)                

CBPD0037

MMACHC c.609G>A Reference Standard

MMACHC                

NM_015506.3:c.609G>A             

p.Trp203Ter

Heterozygous            50%Chr1: 45974647 G>A 

CBPD0032                

MMAA c.503del Reference Standard

MMAA                

NM_172250.3:c.503delC

p.Thr168fs

Heterozygous

50%            

Chr4: 146563578 delC 

CBPD0033                

MMAA c.650T>A Reference Standard

MMAA                

NM_172250.3:c.650T>A

p.Leu217Ter 

Heterozygous

50%
           		Chr4: 146567225 T>A

CBPD0034                

MMUT c.323G>A Reference Standard                

MMUT                

NM_000255.4:c.323G>A

p.Arg108His

Heterozygous

50%            

Chr6: 49426857 G>A

CBPD0035                

MMUT c.1106G>A Reference Standard

MMUT                

NM_000255.4:c.1106G>Ap.Arg369HisHeterozygous50%Chr6: 49419405 G>A

CBPD0036                

MMUT c.729_730insTT Reference Standard

MMUT                

NM_000255.4:c.729_730insTT

p.Asp244fs

Heterozygous

50%

Chr6: 49425428 - 49425429 insTT



General information

Cat.No.                

Name                

Format
               

Unit Size                

Intended Use                

Storage                

Expiry                

CBPD0037

MMACHC c.609G>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0032                

MMAA c.503del Reference Standard

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0033                

MMAA c.650T>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0034                

MMUT c.323G>A Reference Standard                

Genomic DNA

1ug

Research Use Only

2-8°C

36 months

CBPD0035                

MMUT c.1106G>A Reference Standard

Genomic DNA

1ugResearch Use Only2-8°C

36 months

CBPD0036                

MMUT c.729_730insTT 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)

CBPD0037

MMACHC c.609G>A Reference Standard

MMACHC

NM_015506.3:c.609G>A 

p.Trp203Ter

Heterozygous50%Chr1: 45974647 G>A 

CBPD0032

MMAA c.503del Reference Standard

MMAA

NM_172250.3:c.503delC

p.Thr168fs

Heterozygous

50%

Chr4: 146563578 delC 

CBPD0033

MMAA c.650T>A Reference Standard

MMAA

NM_172250.3:c.650T>A

p.Leu217Ter 

Heterozygous

50%
Chr4: 146567225 T>A

CBPD0034

MMUT c.323G>A Reference Standard

MMUT

NM_000255.4:c.323G>A

p.Arg108His

Heterozygous

50%

Chr6: 49426857 G>A

CBPD0035

MMUT c.1106G>A Reference Standard

MMUT

NM_000255.4:c.1106G>Ap.Arg369HisHeterozygous50%Chr6: 49419405 G>A

CBPD0036

MMUT c.729_730insTT Reference Standard

MMUT

NM_000255.4:c.729_730insTT

p.Asp244fs

Heterozygous

50%

Chr6: 49425428 - 49425429 insTT


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