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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGGHG | NM_025092.4 | 4 | 785 | NP_079368.3 |
XM_011520383.2 | 7 | 1711 | XP_011518685.1 | |
XM_011520384.2 | 6 | 1822 | XP_011518686.1 | |
XM_011520385.2 | 6 | 1825 | XP_011518687.1 | |
XM_011520386.2 | 6 | 1825 | XP_011518688.1 | |
XM_011520387.2 | 6 | 1825 | XP_011518689.1 | |
XM_017018355.1 | 5 | 1163 | XP_016873844.1 | |
AK026288.1 | 1 | 196 | BAB15431.1 | |
AK074155.1 | 4 | 788 | BAB84981.1 | |
BC109257.2 | 1 | 184 | AAI09258.1 | |
BC109258.2 | 1 | 184 | AAI09259.1 | |
BP262327.1 | 1 | 196 |
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
Additional Information:
For this assay, SNP(s) [rs72636977] 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)