Assay Details
Target Gene Details
Entrez Gene ID: | 122830 |
Gene Name: | N(alpha)-acetyltransferase 30, NatC catalytic subunit |
Gene Aliases: |
C14orf35, MAK3, Mak3p, NAT12, NAT12P |
Location: |
Chr.14:57390553-57412748 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NAA30 | NM_001011713.2 | NP_001011713.2 | ||
AK092674.1 | ||||
AK296372.1 | ||||
AK304257.1 | ||||
AK307348.1 | ||||
BC118589.1 | ||||
BC122557.1 | ||||
BX648700.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1046422 | Chr.14:57198718 - 58129812 on Build GRCh38 | Gain | C14orf37 AP5M1 NAA30 SLC35F4 EXOC5 C14orf105 |
nsv832806 | Chr.14:57284961 - 57488279 on Build GRCh38 | Loss | AP5M1 NAA30 C14orf105 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |