Assay Details
Target Gene Details
Entrez Gene ID: | 55326 |
Gene Name: | 1-acylglycerol-3-phosphate O-acyltransferase 5 |
Gene Aliases: |
1AGPAT5, LPAATE |
Location: |
Chr.8:6708357-6761503 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AGPAT5 | NM_018361.3 | NP_060831.2 | ||
XM_011534751.2 | XP_011533053.1 | |||
AF375789.1 | AAK54809.1 | |||
AK002072.1 | BAA92069.1 | |||
AK310545.1 | ||||
AL136587.1 | CAB66522.1 | |||
BC023550.2 | AAH23550.1 | |||
BC068519.1 | AAH68519.1 | |||
BC080537.1 | AAH80537.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1021684 | Chr.8:6492570 - 6951933 on Build GRCh38 | Loss | MIR4659A GS1-24F4.2 MCPH1-AS1 DEFA6 DEFB1 ANGPT2 MIR4659B MIR8055 DEFA8P DEFA4 XKR5 MCPH1 AGPAT5 |
nsv610004 | Chr.8:6544845 - 6915391 on Build GRCh38 | Gain | MIR4659B MIR8055 MIR4659A GS1-24F4.2 XKR5 MCPH1 MCPH1-AS1 AGPAT5 DEFB1 ANGPT2 |
nsv1025976 | Chr.8:6615427 - 6829450 on Build GRCh38 | Loss | MIR4659B MIR8055 MIR4659A XKR5 MCPH1 MCPH1-AS1 AGPAT5 |
nsv6059 | Chr.8:6693878 - 6726740 on Build GRCh38 | Insertion | MCPH1-AS1 AGPAT5 |
esv2422383 | Chr.8:6504868 - 6924071 on Build GRCh38 | Duplication | MIR4659B MIR8055 MIR4659A GS1-24F4.2 XKR5 MCPH1 MCPH1-AS1 AGPAT5 DEFB1 ANGPT2 |
nsv831220 | Chr.8:6670324 - 6870969 on Build GRCh38 | Gain | MIR4659B MIR4659A GS1-24F4.2 XKR5 MCPH1-AS1 AGPAT5 DEFB1 |
nsv610006 | Chr.8:6710680 - 7063882 on Build GRCh38 | Gain | MIR4659A DEFT1P GS1-24F4.2 DEFA11P DEFA9P DEFA10P DEFA5 DEFA1B DEFA6 DEFB1 MIR4659B DEFA7P DEFA8P DEFA4 DEFT1P2 XKR5 DEFA3 DEFA1 AGPAT5 |
nsv1031577 | Chr.8:6712833 - 8008628 on Build GRCh38 | Gain | FAM66E LOC101928095 DEFB4B DEFA10P DEFB107A PRR23D1 USP17L3 DEFB104B LOC101929400 DEFA8P DEFB106A DEFT1P2 DEFB104A DEFB105A SPAG11A FAM90A7P DEFT1P DEFB108P1 ZNF705B DEFB1 DEFB107B DEFA7P ZNF705G DEFA4 XKR5 FAM66B DEFA1 DEFB109P1B DEFB103B MIR4659A GS1-24F4.2 DEFA11P DEFA9P DEFA5 USP17L1 LOC107986910 DEFB106B OR7E154P USP17L8 SPAG11B AGPAT5 DEFA1B DEFB103A OR7E125P FAM90A10P DEFA6 USP17L4 MIR4659B LINC00965 DEFB105B PRR23D2 DEFB4A DEFA3 |
dgv6876n100 | Chr.8:6687977 - 6812428 on Build GRCh38 | Loss | MIR4659B MIR4659A XKR5 MCPH1-AS1 AGPAT5 |
More Information
Additional Information:
For this assay, SNP(s) [rs78273148] 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 |