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 | 2448 | NP_001159694.1 |
NM_020811.1 | 9 | 2421 | NP_065862.1 | |
XM_011545189.2 | 9 | 2738 | XP_011543491.1 | |
XM_011545191.2 | 8 | 5096 | XP_011543493.1 | |
XM_017018054.1 | 9 | 3652 | XP_016873543.1 | |
XM_017018055.1 | 7 | 2932 | XP_016873544.1 | |
AB037815.1 | 8 | 3546 | ||
AK289938.1 | 1 | 784 | ||
AK294035.1 | 11 | 2370 | ||
AK295331.1 | ||||
BC036557.1 | 1 | 819 | AAH36557.1 | |
EF560746.1 | 9 | 2426 |
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 |
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dgv1977n54 | Chr.11:67397024 - 67521123 on Build GRCh38 | Loss |
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dgv52n111 | Chr.11:67362651 - 67521123 on Build GRCh38 | Deletion |
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nsv521723 | Chr.11:67408221 - 67543787 on Build GRCh38 | Loss |
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More Information
Set Membership: |
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Gene Ontology Categories:
