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: | Within Exon 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGGHG | NM_025092.4 | 14 | 2885 | NP_079368.3 |
XM_011520383.2 | 17 | 3811 | XP_011518685.1 | |
XM_011520384.2 | 16 | 3868 | XP_011518686.1 | |
XM_017018355.1 | 15 | 3263 | XP_016873844.1 | |
AI217945.1 | ||||
AK026288.1 | 8 | 1527 | BAB15431.1 | |
AK074155.1 | 11 | 4047 | BAB84981.1 | |
AK090428.1 | 8 | 2502 | BAC03409.1 | |
AK296137.1 | ||||
AL832932.1 | CAH56316.1 | |||
BC109257.2 | 11 | 2284 | AAI09258.1 | |
BC109258.2 | 11 | 2284 | AAI09259.1 | |
BM842384.1 | 1 | 97 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv527327 | Chr.11:295343 - 620599 on Build GRCh38 | Loss |
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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
Additional Information:
For this assay, SNP(s) [rs73396562] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)