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PNPLA3 p.I148M Reference Standard

CBPA0135

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Introduction  
Format Genomic DNA
Description The human patatin-like phospholipase domain-containing 3 (PNPLA3) gene is located in the long arm of the chromosome 22, it has nine exons with a transcript length of 2805 base pairs encodings for a protein of 481 amino-acids. The PNPLA3 rs738409 is a single nucleotide substitution of a cytosine to guanine encoding for a nonsynonymous change, namely an isoleucine to methionine substitution at position 148 (I148M) of the protein.
   
Technical Data 
Mutatation 1 Gene: PNPLA3
AA Change: p.I148M 
DNA Change: NM_025225.3 c.444C>G
Chr position (GRCh38): chr22: 43928847 C>G
Allelic Frequency: 50%
Zygosity: Heterozygous
Mutatation 2 Gene: PNPLA3
AA Change: p.p149=
DNA Change: NM_025225.3 c.447C>T
Chr position (GRCh38): chr22: 43928850 C>T
Allelic Frequency: 50%
Zygosity: Heterozygous
   
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
Storage 2-8°C
Expiry 36 months from the date of manufacture

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