Assay Details
Target Gene Details
Entrez Gene ID: | 80162 |
Gene Name: | protein-glucosylgalactosylhydroxylysine glucosidase |
Gene Aliases: |
ATHL1 |
Location: |
Chr.11:287760-295688 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 7 - Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGGHG | NM_025092.4 | NP_079368.3 | ||
XM_011520383.2 | XP_011518685.1 | |||
XM_011520384.2 | XP_011518686.1 | |||
XM_011520385.2 | XP_011518687.1 | |||
XM_011520386.2 | XP_011518688.1 | |||
XM_011520387.2 | XP_011518689.1 | |||
XM_017018355.1 | XP_016873844.1 | |||
AK026288.1 | BAB15431.1 | |||
AK074155.1 | 4 | 1050 | BAB84981.1 | |
BC109257.2 | AAI09258.1 | |||
BC109258.2 | AAI09259.1 | |||
BP262327.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3891905 | Chr.11:269147 - 336332 on Build GRCh38 | Gain |
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nsv516809 | Chr.11:290233 - 295876 on Build GRCh38 | Loss |
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nsv552765 | Chr.11:199256 - 320836 on Build GRCh38 | Gain |
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dgv1505n54 | Chr.11:198510 - 470331 on Build GRCh38 | Gain |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)