Assay Details
Target Gene Details
Entrez Gene ID: | 9 |
Gene Name: | N-acetyltransferase 1 |
Gene Aliases: |
AAC1, MNAT, NAT-1, NATI |
Location: |
Chr.8:18170419-18223689 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 4 - Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NAT1 | NM_000662.7 | NP_000653.3 | ||
NM_001160170.3 | NP_001153642.1 | |||
NM_001160171.3 | NP_001153643.1 | |||
NM_001160172.3 | NP_001153644.1 | |||
NM_001160173.3 | NP_001153645.1 | |||
NM_001160175.3 | NP_001153647.1 | |||
NM_001160176.3 | NP_001153648.1 | |||
NM_001160179.2 | NP_001153651.1 | |||
NM_001291962.1 | NP_001278891.1 | |||
XM_011544687.1 | XP_011542989.1 | |||
XM_011544688.1 | XP_011542990.1 | |||
XM_017013947.1 | XP_016869436.1 | |||
AJ581135.1 | CAE46162.1 | |||
AJ581152.1 | ||||
AV754344.1 | ||||
BC047666.1 | AAH47666.1 | |||
BG655073.1 | ||||
BG941635.1 | ||||
BM924372.1 | ||||
BX647521.1 | ||||
CD702544.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1025858 | Chr.8:18177517 - 18279674 on Build GRCh38 | Loss | NAT1 |
esv3616514 | Chr.8:18121821 - 18287748 on Build GRCh38 | Gain | NAT1 |
nsv522647 | Chr.8:17979580 - 18314502 on Build GRCh38 | Loss | NAT1 PCM1 LOC101929066 ASAH1 |
nsv1026366 | Chr.8:18071966 - 18557180 on Build GRCh38 | Gain | NAT1 NAT2 LOC101929066 ASAH1 PSD3 |
More Information
Additional Information:
For this assay, SNP(s) [rs111399247] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |