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: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NAT1 | NM_001160179.2 | NP_001153651.1 | ||
NM_001291962.1 | NP_001278891.1 | |||
XM_017013947.1 | XP_016869436.1 | |||
BM924372.1 | ||||
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 ASAH1 PCM1 LOC101929066 |
esv2761170 | Chr.8:18176663 - 18179296 on Build GRCh38 | Loss | NAT1 |
nsv1026366 | Chr.8:18071966 - 18557180 on Build GRCh38 | Gain | PSD3 NAT1 ASAH1 NAT2 LOC101929066 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |