NAT2
Gene name: N-acetyltransferase 2 (arylamine N-acetyltransferase)
OMIM ID: 612182 Chromosome location: 8p22
Polymorphisms
| Disease/Phenotype | Acetylation, slow |
|---|
| Reference transcript | NM_000015.2 |
|---|
| DNA Change | c.341T>C |
|---|
| A.A. Change | p.Ile114Thr |
|---|
| Exon/Intron | exon 2 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1801280 |
|---|
| Cases | |
|---|
| Controls | 163 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | | 53% | | |
|
|---|
| Reference | Guaoua S, Ratbi I, Laarabi FZ, Elalaoui SC, Jaouad IC, Barkat A, Sefiani A.Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet. 2014 Dec 29;15:156. |
|---|
| Disease/Phenotype | Acetylation, slow |
|---|
| Reference transcript | NM_000015.2 |
|---|
| DNA Change | c.590G>A |
|---|
| A.A. Change | p.Arg197Gln |
|---|
| Exon/Intron | exon 2 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1799930 |
|---|
| Cases | |
|---|
| Controls | 163 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | | 25% | | |
|
|---|
| Reference | Guaoua S, Ratbi I, Laarabi FZ, Elalaoui SC, Jaouad IC, Barkat A, Sefiani A.Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet. 2014 Dec 29;15:156. |
|---|
| Disease/Phenotype | Acetylation, slow |
|---|
| Reference transcript | NM_000015.2 |
|---|
| DNA Change | c.857G>A |
|---|
| A.A. Change | p.Gly286Glu |
|---|
| Exon/Intron | exon 2 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1799931 |
|---|
| Cases | |
|---|
| Controls | 163 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | | 2% | | |
|
|---|
| Reference | Guaoua S, Ratbi I, Laarabi FZ, Elalaoui SC, Jaouad IC, Barkat A, Sefiani A.Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet. 2014 Dec 29;15:156. |
|---|
| Disease/Phenotype | Acetylation, slow |
|---|
| Reference transcript | NM_000015.2 |
|---|
| DNA Change | c.191G>A |
|---|
| A.A. Change | p.Arg64Gln |
|---|
| Exon/Intron | exon 2 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1801279 |
|---|
| Cases | |
|---|
| Controls | 163 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | | 4% | | |
|
|---|
| Reference | Guaoua S, Ratbi I, Laarabi FZ, Elalaoui SC, Jaouad IC, Barkat A, Sefiani A.Distribution of allelic and genotypic frequencies of NAT2 and CYP2E1 variants in Moroccan population.
BMC Genet. 2014 Dec 29;15:156. |
|---|