Assay Details
Target Gene Details
Entrez Gene ID: | 26278 |
Gene Name: | sacsin molecular chaperone |
Gene Aliases: |
ARSACS, DNAJC29, PPP1R138, SPAX6 |
Location: |
Chr.13:23328823-23433728 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SACS | NM_014363.5 | NP_055178.3 | ||
XM_005266338.2 | XP_005266395.1 | |||
DB213398.1 |
Target Gene Details
Entrez Gene ID: | 100506680 |
Gene Name: | SACS antisense RNA 1 |
Gene Aliases: |
- |
Location: |
Chr.13:23418971-23428869 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SACS-AS1 | NR_103450.1 | |||
AK057396.1 | ||||
DB022332.1 | ||||
DB459589.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv561292 | Chr.13:23025847 - 24348376 on Build GRCh38 | Loss |
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esv3892311 | Chr.13:22674660 - 24411768 on Build GRCh38 | Gain |
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nsv561334 | Chr.13:23324315 - 23510670 on Build GRCh38 | Gain |
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esv3580576 | Chr.13:22945778 - 24362710 on Build GRCh38 | Loss |
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esv2422502 | Chr.13:22755560 - 24382791 on Build GRCh38 | Duplication |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
nsv525965 | Chr.13:22937442 - 24358507 on Build GRCh38 | Gain |
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dgv3084n54 | Chr.13:22925582 - 24378278 on Build GRCh38 | Gain |
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esv3892319 | Chr.13:23325488 - 23598910 on Build GRCh38 | Gain |
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nsv521022 | Chr.13:23396720 - 23450205 on Build GRCh38 | Loss |
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dgv1615n100 | Chr.13:22930769 - 24362849 on Build GRCh38 | Gain |
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nsv561336 | Chr.13:23422058 - 23453495 on Build GRCh38 | Loss |
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esv3631519 | Chr.13:23357936 - 23465792 on Build GRCh38 | Gain |
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esv2751136 | Chr.13:22982261 - 24393377 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:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)