PNPLA3 p.I148M Reference Standard
CBPA0136
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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: 100% | |
| Zygosity: Homozygous | |
| 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: 100% | |
| Zygosity: Homozygous | |
| 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 |
