Assay Details
Target Gene Details
Entrez Gene ID: | 80755 |
Gene Name: | alanyl-tRNA synthetase domain containing 1 |
Gene Aliases: |
- |
Location: |
Chr.17:42950526-42964498 on Build GRCh38 |
Assay Gene Location: | Within Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AARSD1 | NM_001261434.1 | 5 | 550 | NP_001248363.1 |
AK309477.1 | 5 | 497 | ||
AL515977.3 | 5 | 495 | ||
BP368900.1 | ||||
CA951145.1 | 5 | 519 |
Target Gene Details
Entrez Gene ID: | 100885850 |
Gene Name: | PTGES3L-AARSD1 readthrough |
Gene Aliases: |
- |
Location: |
Chr.17:42950526-42980528 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTGES3L-AARSD1 | NM_001136042.2 | 10 | 1360 | NP_001129514.2 |
NM_025267.3 | 10 | 976 | NP_079543.1 | |
AF039235.1 | 10 | 1065 | ||
AK094084.1 | 10 | 914 | ||
AK295447.1 | 10 | 1360 | ||
BC004172.2 | 10 | 976 | AAH04172.1 | |
BC019324.1 | 10 | 976 | AAH19324.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv2057 | Chr.17:42946856 - 42980330 on Build GRCh38 | Insertion | AARSD1 PTGES3L PTGES3L-AARSD1 |
nsv457742 | Chr.17:42907778 - 43019464 on Build GRCh38 | Loss | RUNDC1 G6PC AARSD1 PTGES3L IFI35 VAT1 RPL27 PTGES3L-AARSD1 |
nsv483009 | Chr.17:42829470 - 43006887 on Build GRCh38 | Gain | AOC3 RUNDC1 G6PC AARSD1 PTGES3L IFI35 LINC00671 AOC2 PSME3 RPL27 PTGES3L-AARSD1 AOC4P |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |