Assay Details
Target Gene Details
Entrez Gene ID: | 326 |
Gene Name: | autoimmune regulator |
Gene Aliases: |
AIRE1, APECED, APS1, APSI, PGA1 |
Location: |
Chr.21:44285838-44298219 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AIRE | NM_000383.3 | NP_000374.1 | ||
AB006682.1 | BAA23988.1 | |||
AK309572.1 | ||||
Z97990.1 | CAB10790.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv953646 | Chr.21:44279118 - 44523117 on Build GRCh38 | Deletion |
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esv2723638 | Chr.21:44249174 - 44593709 on Build GRCh38 | Deletion |
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nsv509800 | Chr.21:44284048 - 44471571 on Build GRCh38 | Insertion |
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nsv587774 | Chr.21:44283777 - 44306907 on Build GRCh38 | Loss |
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nsv587740 | Chr.21:44209682 - 44429981 on Build GRCh38 | Loss |
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esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
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