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See other NAT2 GT Assays ›
SNP ID:
rs1799930
Gene
NAT2
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.8: 18400593 - 18400593 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

ATATACTTATTTACGCTTGAACCTC[A/G]AACAATTGAAGATTTTGAGTCTATG

Assay ID C___1204091_10
Size 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 612182

Literature Links:

 NAT2 PubMed Links

Allele Nomenclature:

 NAT2*14D,g.590G>A NAT2*5E,g.590G>A NAT2*5J,g.590G>A NAT2*6A,g.590G>A NAT2*6B,g.590G>A NAT2*6C,g.590G>A NAT2*6D,g.590G>A NAT2*6E,g.590G>A

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.27)
(0.73)
Caucasian
A (0.36)
(0.64)
CEPH (CEU)
A (0.29)
(0.71)
EAS
A (0.26)
(0.74)
African American
A (0.38)
(0.62)
YRI (Yoruba)
A (0.25)
(0.75)
SAS
A (0.36)
(0.64)
Japanese
A (0.20)
(0.80)
JPT (Japanese)
A (0.26)
(0.74)
AFR
A (0.24)
(0.76)
Chinese
A (0.31)
(0.69)
CHB (Han Chinese)
A (0.17)
(0.83)
EUR
A (0.28)
(0.72)
AMR
A (0.17)
(0.83)
NAT2 - N-acetyltransferase 2
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000015.2 697 Missense Mutation CAA,CGA Q,R 197 NP_000006.2
XM_017012938.1 697 Missense Mutation CAA,CGA Q,R 197 XP_016868427.1

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More Information


Set Membership:

 HapMap DME Validated Inventoried

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Function(s) Process(es)


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