Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Acetylation, slow

OMIM:243400
Mode of inheritance:Multifactorial
Disease classification:Not elsewhere classified


Polymorphisms

Gene symbolNAT2
Reference transcriptNM_000015.2
DNA Changec.341T>C
A.A. Changep.Ile114Thr
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1801280
Cases
Controls163
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C53%
ReferenceGuaoua 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.
Gene symbolNAT2
Reference transcriptNM_000015.2
DNA Changec.590G>A
A.A. Changep.Arg197Gln
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1799930
Cases
Controls163
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A25%
ReferenceGuaoua 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.
Gene symbolNAT2
Reference transcriptNM_000015.2
DNA Changec.857G>A
A.A. Changep.Gly286Glu
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1799931
Cases
Controls163
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A2%
ReferenceGuaoua 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.
Gene symbolNAT2
Reference transcriptNM_000015.2
DNA Changec.191G>A
A.A. Changep.Arg64Gln
Exon/Intronexon 2
Variation Typesubstitution
Reference SNPrs1801279
Cases
Controls163
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A4%
ReferenceGuaoua 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.
Gene symbolCYP2E1
Reference transcriptNM_000773.3
DNA Changec.-1055C>T (Rsa1 c1>c2)
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2031920
Cases
Controls130
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
c199.2%
c20.8%
c1/c198.5%
c1/c298.5%
ReferenceGuaoua 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.