Assay Details
Target Gene Details
Entrez Gene ID: | 641371 |
Gene Name: | acyl-CoA thioesterase 1 |
Gene Aliases: |
ACH2, CTE-1, LACH2 |
Location: |
Chr.14:73493021-73543799 on Build GRCh38 |
Assay Gene Location: | Within Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ACOT1 | XM_017021590.1 | XP_016877079.1 | ||
XM_017021591.1 | XP_016877080.1 |
Target Gene Details
Entrez Gene ID: | 399671 |
Gene Name: | HEAT repeat containing 4 |
Gene Aliases: |
- |
Location: |
Chr.14:73478484-73634418 on Build GRCh38 |
Assay Gene Location: | Within Intron 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEATR4 | NM_001220484.1 | NP_001207413.1 | ||
NM_203309.2 | NP_976054.2 | |||
XM_006720143.2 | XP_006720206.1 | |||
XM_011536760.2 | XP_011535062.1 | |||
XM_017021289.1 | XP_016876778.1 | |||
AK093515.1 | ||||
AK302564.1 | ||||
BC047590.1 | AAH47590.1 | |||
GU727638.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3892561 | Chr.14:73365865 - 73620531 on Build GRCh38 | Gain | ACOT1 C14orf169 ACOT2 NUMB LOC101928143 LOC105370561 HEATR4 ACOT6 ACOT4 |
esv2759996 | Chr.14:73493593 - 73660367 on Build GRCh38 | Gain | ACOT1 ACOT2 DNAL1 HEATR4 ACOT6 ACOT4 |
nsv1035460 | Chr.14:72854572 - 73897173 on Build GRCh38 | Gain | LOC101928123 C14orf169 PSEN1 DPF3 ELMSAN1 DNAL1 PAPLN PTGR2 LOC105370561 PNMA1 ACOT6 ACOT4 ACOT1 ACOT2 ZNF410 NUMB LOC101928143 MIR4505 DCAF4 HEATR4 LOC100506476 LOC100506498 RBM25 ZFYVE1 |
esv3581287 | Chr.14:73502533 - 73507198 on Build GRCh38 | Loss | ACOT1 HEATR4 |
nsv832828 | Chr.14:73498250 - 73664448 on Build GRCh38 | Gain+Loss | ACOT1 ACOT2 DNAL1 HEATR4 ACOT6 ACOT4 |
nsv510643 | Chr.14:73483755 - 73582944 on Build GRCh38 | Deletion | ACOT1 C14orf169 ACOT2 HEATR4 |
More Information
Additional Information:
For this assay, SNP(s) [rs370782118,rs77460561] 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 Intronic Non-exonic DGV Variation |