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: | Within Intron 4 |
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 | AP5M1 C14orf105 C14orf37 SLC35F4 EXOC5 NAA30 |
esv2664347 | Chr.14:57401519 - 57401924 on Build GRCh38 | Deletion | NAA30 |
nsv832806 | Chr.14:57284961 - 57488279 on Build GRCh38 | Loss | AP5M1 C14orf105 NAA30 |
esv3634606 | Chr.14:57401494 - 57401956 on Build GRCh38 | Loss | NAA30 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |