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 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AASDH | NM_001286668.1 | 14 | 2912 | NP_001273597.1 |
NM_001286669.1 | 14 | 3063 | NP_001273598.1 | |
NM_001286670.1 | 12 | 2587 | NP_001273599.1 | |
NM_001286671.1 | 12 | 2765 | NP_001273600.1 | |
NM_001323890.1 | 16 | 3301 | NP_001310819.1 | |
NM_001323892.1 | 14 | 3020 | NP_001310821.1 | |
NM_001323893.1 | 13 | 2899 | NP_001310822.1 | |
NM_001323899.1 | 14 | 3077 | NP_001310828.1 | |
NM_181806.3 | 15 | 3184 | NP_861522.2 | |
XM_017007740.1 | 14 | 3013 | XP_016863229.1 | |
XM_017007741.1 | 16 | 3260 | XP_016863230.1 | |
XM_017007742.1 | 13 | 2960 | XP_016863231.1 | |
XM_017007743.1 | 13 | 2849 | XP_016863232.1 | |
XM_017007744.1 | 12 | 2767 | XP_016863233.1 | |
AF516672.1 | 14 | 2827 | AAP76519.1 | |
AK294332.1 | 12 | 2549 | ||
AK303733.1 | 13 | 2852 | ||
AK304309.1 | 15 | 3175 | ||
AK316296.1 | 15 | 3165 | ||
AY314787.1 | 15 | 3147 | AAQ83120.1 | |
AY422212.1 | 15 | 3099 | AAR31184.1 | |
BC071815.1 | 1 | 98 | AAH71815.1 | |
BC142709.1 | 12 | 2701 | ||
BX640635.1 | 10 | 4015 | 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 | LOC100506514 ARL9 KIAA1211 SRP72 AASDH PAICS PPAT |
nsv829940 | Chr.4:56206175 - 56396564 on Build GRCh38 | Gain | KIAA1211 AASDH LOC101928760 PPAT |
dgv5213n100 | Chr.4:56076751 - 56538345 on Build GRCh38 | Gain | LOC100506514 ARL9 KIAA1211 SRP72 AASDH LOC101928760 THEGL PAICS PPAT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |