Assay Details
Target Gene Details
Entrez Gene ID: | 57571 |
Gene Name: | carnosine synthase 1 |
Gene Aliases: |
ATPGD1 |
Location: |
Chr.11:67415678-67425607 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CARNS1 | NM_001166222.1 | 10 | 3841 | NP_001159694.1 |
| NM_020811.1 | 9 | 3814 | NP_065862.1 | |
| XM_011545189.2 | 9 | 4131 | XP_011543491.1 | |
| XM_011545191.2 | 8 | 6489 | XP_011543493.1 | |
| XM_017018054.1 | 9 | 5045 | XP_016873543.1 | |
| XM_017018055.1 | 7 | 4325 | XP_016873544.1 | |
| AB037815.1 | 8 | 4939 | ||
| BC036557.1 | 1 | 2212 | AAH36557.1 | |
| EF560746.1 | 9 | 3819 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv468604 | Chr.11:67418529 - 67516420 on Build GRCh38 | Loss |
|
| dgv1977n54 | Chr.11:67397024 - 67521123 on Build GRCh38 | Loss |
|
| dgv52n111 | Chr.11:67362651 - 67521123 on Build GRCh38 | Deletion |
|
| nsv521723 | Chr.11:67408221 - 67543787 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map