Assay Details
Target Gene Details
Entrez Gene ID: | 80218 |
Gene Name: | N(alpha)-acetyltransferase 50, NatE catalytic subunit |
Gene Aliases: |
MAK3, NAT13, NAT13P, NAT5, NAT5P, SAN |
Location: |
Chr.3:113716460-113746299 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NAA50 | NM_001308445.1 | 5 | 3968 | NP_001295374.1 |
NM_025146.3 | 5 | 3971 | NP_079422.1 | |
DB096143.1 | 1 | 223 | ||
DB198553.1 | 1 | 359 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1013506 | Chr.3:113171761 - 113962104 on Build GRCh38 | Gain | NAA50 CFAP44-AS1 MIR4446 BOC USF3 SPICE1 ZDHHC23 SIDT1 GRAMD1C ATP6V1A CFAP44 MIR8076 |
nsv519099 | Chr.3:113718000 - 113731648 on Build GRCh38 | Loss | NAA50 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |