Assay Details
Target Gene Details
Entrez Gene ID: | 132949 |
Gene Name: | aminoadipate-semialdehyde dehydrogenase |
Gene Aliases: |
ACSF4, LYS2, NRPS1098, NRPS998 |
Location: |
Chr.4:56337687-56387677 on Build GRCh38 |
Assay Gene Location: | Within Exon 15 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AASDH | NM_001286668.1 | 12 | 2632 | NP_001273597.1 |
NM_001286669.1 | 12 | 2783 | NP_001273598.1 | |
NM_001286670.1 | 10 | 2307 | NP_001273599.1 | |
NM_001286671.1 | NP_001273600.1 | |||
NM_001323890.1 | 14 | 3021 | NP_001310819.1 | |
NM_001323892.1 | 12 | 2740 | NP_001310821.1 | |
NM_001323893.1 | 11 | 2619 | NP_001310822.1 | |
NM_001323899.1 | 12 | 2797 | NP_001310828.1 | |
NM_181806.3 | 13 | 2904 | NP_861522.2 | |
XM_017007740.1 | 13 | 2865 | XP_016863229.1 | |
XM_017007741.1 | 14 | 2980 | XP_016863230.1 | |
XM_017007742.1 | 11 | 2680 | XP_016863231.1 | |
XM_017007743.1 | 12 | 2701 | XP_016863232.1 | |
XM_017007744.1 | 10 | 2487 | XP_016863233.1 | |
AF516672.1 | 12 | 2547 | AAP76519.1 | |
AK294332.1 | 10 | 2269 | ||
AK303733.1 | 11 | 2572 | ||
AK304309.1 | 13 | 2895 | ||
AK316296.1 | 13 | 2885 | ||
AY314787.1 | 13 | 2867 | AAQ83120.1 | |
AY422212.1 | 13 | 2819 | AAR31184.1 | |
BC142709.1 | ||||
BX640635.1 | 8 | 3735 | CAH56482.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1161086 | Chr.4:56310907 - 56510457 on Build GRCh38 | Duplication | KIAA1211 AASDH PAICS PPAT LOC100506514 SRP72 ARL9 |
nsv829940 | Chr.4:56206175 - 56396564 on Build GRCh38 | Gain | KIAA1211 AASDH LOC101928760 PPAT |
dgv5213n100 | Chr.4:56076751 - 56538345 on Build GRCh38 | Gain | KIAA1211 AASDH PAICS LOC101928760 PPAT LOC100506514 SRP72 ARL9 THEGL |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |