Genomic Map
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Target Gene Details
Entrez Gene ID: | 3158 |
Gene Name: | 3-hydroxy-3-methylglutaryl-CoA synthase 2 |
Gene Aliases: |
- |
Location: |
Chr.1:119747996-119769125 on Build GRCh38 |
Assay Gene Location: | Within Exon 10 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HMGCS2 | NM_001166107.1 | 9 | 1690 | NP_001159579.1 |
| NM_005518.3 | 10 | 1816 | NP_005509.1 | |
| XM_011541313.1 | 9 | 1844 | XP_011539615.1 | |
| AK301594.1 | ||||
| AK302276.1 | 9 | 1651 | ||
| AK303777.1 | 9 | 1663 | ||
| BC044217.1 | 10 | 1769 | AAH44217.1 | |
| U12789.1 | 9 | 1295 | AAA92674.1 | |
| X83618.1 | 10 | 1779 | CAA58593.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv831215 | Chr.1:119723826 - 119905846 on Build GRCh38 | Gain |
 PHGDH
ADAM30
HMGCS2
REG4
NBPF7
|
| nsv524681 | Chr.1:118890895 - 121570001 on Build GRCh38 | Gain |
LOC105378933
PFN1P2
LINC00622
PPIAL4A
LOC100996724
NBPF26
EMBP1
SEC22B
LOC101929796
LOC101929798
LOC100996721
REG4
HAO2-IT1
FCGR1B
WARS2-IT1
ZNF697
NOTCH2
LOC100996318
FAM72B
PHGDH
ADAM30
TBX15
HAO2
HIST2H2BA
LINC00623
NBPF8
SRGAP2C
LOC101929147
SRGAP2-AS1
NBPF7
RNVU1-4
RNVU1-19
HSD3BP4
HSD3B1
HMGCS2
LOC100996720
WARS2
HSD3B2
LOC105369199
|
| nsv428201 | Chr.1:119724690 - 120154589 on Build GRCh38 | Gain |
PHGDH
ADAM30
SEC22B
HMGCS2
REG4
NBPF7
NOTCH2
|
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Additional Information:
For this assay, SNP(s) [rs138575225] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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