Assay Details
Target Gene Details
Entrez Gene ID: | 284004 |
Gene Name: | hexosaminidase D |
Gene Aliases: |
- |
Location: |
Chr.17:82418376-82442645 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HEXDC | NM_173620.2 | NP_775891.2 | ||
XM_005256346.3 | XP_005256403.1 | |||
XM_005256347.4 | XP_005256404.1 | |||
XM_006722280.3 | XP_006722343.1 | |||
XM_017024484.1 | XP_016879973.1 | |||
XM_017024485.1 | XP_016879974.1 | |||
AK074405.1 | BAB85072.1 | |||
BC018205.1 | AAH18205.2 | |||
BC035561.1 | AAH35561.1 | |||
DN999062.1 | ||||
FM204887.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160502 | Chr.17:82411695 - 82526070 on Build GRCh38 | Deletion |
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esv2760445 | Chr.17:82267669 - 82421456 on Build GRCh38 | Gain |
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nsv1062980 | Chr.17:82408938 - 82687942 on Build GRCh38 | Gain |
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nsv428351 | Chr.17:81152631 - 83064073 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
nsv1067160 | Chr.17:82381853 - 82446450 on Build GRCh38 | Loss |
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nsv828143 | Chr.17:82400094 - 82429642 on Build GRCh38 | Loss |
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nsv469561 | Chr.17:82251148 - 82472274 on Build GRCh38 | Loss |
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nsv833574 | Chr.17:82419054 - 82579254 on Build GRCh38 | Gain |
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nsv1067194 | Chr.17:82294731 - 82653129 on Build GRCh38 | Gain |
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esv2762577 | Chr.17:82244836 - 82838431 on Build GRCh38 | Gain+Loss |
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esv21913 | Chr.17:81828123 - 83103548 on Build GRCh38 | Gain+Loss |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)