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 | DEFB1 XKR5 MIR4659A DEFA6 DEFA4 MIR4659B MIR8055 DEFA8P MCPH1 GS1-24F4.2 MCPH1-AS1 ANGPT2 AGPAT5 |
nsv610004 | Chr.8:6544845 - 6915391 on Build GRCh38 | Gain | MIR4659B DEFB1 XKR5 MIR8055 MIR4659A MCPH1 GS1-24F4.2 MCPH1-AS1 ANGPT2 AGPAT5 |
nsv1025976 | Chr.8:6615427 - 6829450 on Build GRCh38 | Loss | MIR4659B XKR5 MIR8055 MIR4659A 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 DEFB1 XKR5 MIR8055 MIR4659A MCPH1 GS1-24F4.2 MCPH1-AS1 ANGPT2 AGPAT5 |
nsv831220 | Chr.8:6670324 - 6870969 on Build GRCh38 | Gain | MIR4659B DEFB1 XKR5 MIR4659A GS1-24F4.2 MCPH1-AS1 AGPAT5 |
nsv610006 | Chr.8:6710680 - 7063882 on Build GRCh38 | Gain | DEFA7P DEFA11P DEFB1 XKR5 MIR4659A DEFA6 DEFA4 DEFA5 DEFT1P2 DEFA3 MIR4659B DEFA1 DEFA8P GS1-24F4.2 DEFT1P DEFA10P DEFA9P AGPAT5 DEFA1B |
nsv1031577 | Chr.8:6712833 - 8008628 on Build GRCh38 | Gain | DEFA7P PRR23D2 ZNF705G MIR4659A FAM90A10P OR7E125P DEFB106A DEFB103B DEFB103A DEFB108P1 DEFA9P AGPAT5 DEFB105B DEFB1 DEFB106B LINC00965 DEFB4A LOC107986910 DEFA4 DEFA5 DEFT1P2 DEFB109P1B PRR23D1 DEFB107B MIR4659B USP17L8 ZNF705B DEFA8P FAM66E FAM66B DEFT1P DEFA1B LOC101929400 OR7E154P DEFB105A FAM90A7P DEFA3 SPAG11A LOC101928095 GS1-24F4.2 SPAG11B DEFB104B DEFA11P USP17L4 XKR5 DEFA6 USP17L1 DEFB104A DEFB107A DEFB4B DEFA1 USP17L3 DEFA10P |
dgv6876n100 | Chr.8:6687977 - 6812428 on Build GRCh38 | Loss | MIR4659B XKR5 MIR4659A MCPH1-AS1 AGPAT5 |
More Information
Additional Information:
For this assay, SNP(s) [rs114914513,rs372548565] 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 |