Assay Details
Target Gene Details
Entrez Gene ID: | 51179 |
Gene Name: | hydroxyacid oxidase 2 |
Gene Aliases: |
GIG16, HAOX2 |
Location: |
Chr.1:119361913-119394130 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HAO2 | NM_001005783.2 | NP_001005783.2 | ||
NM_016527.3 | NP_057611.1 | |||
XM_017001421.1 | XP_016856910.1 | |||
AF203975.1 | AAF14000.1 | |||
AF231917.1 | AAF40200.1 | |||
AK298289.1 | ||||
AY513277.1 | AAT08030.1 | |||
BC020863.1 | AAH20863.1 | |||
BG428999.1 | ||||
CB121424.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv34089 | Chr.1:119209489 - 119530338 on Build GRCh38 | Loss | LOC101929147 HSD3B1 HSD3B2 HAO2-IT1 HAO2 |
esv2761649 | Chr.1:119298022 - 119383313 on Build GRCh38 | Gain | HAO2-IT1 HAO2 |
nsv1004662 | Chr.1:119304824 - 119612175 on Build GRCh38 | Gain | HSD3BP4 HSD3B1 HSD3B2 HAO2-IT1 HAO2 LINC00622 |
nsv524681 | Chr.1:118890895 - 121570001 on Build GRCh38 | Gain | PFN1P2 LOC101929798 LOC100996721 TBX15 HAO2-IT1 NBPF8 LOC100996724 FAM72B HAO2 WARS2 NOTCH2 SRGAP2-AS1 EMBP1 PPIAL4A HMGCS2 SRGAP2C RNVU1-4 LOC100996720 HIST2H2BA LINC00623 REG4 FCGR1B WARS2-IT1 LOC101929147 LOC100996318 ZNF697 ADAM30 LOC105369199 NBPF7 RNVU1-19 LOC101929796 PHGDH NBPF26 HSD3BP4 HSD3B1 LOC105378933 HSD3B2 SEC22B LINC00622 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |