Assay Details
Target Gene Details
Entrez Gene ID: | 80324 |
Gene Name: | pseudouridylate synthase 1 |
Gene Aliases: |
MLASA1 |
Location: |
Chr.12:131929200-131944040 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PUS1 | NM_001002019.2 | 5 | 741 | NP_001002019.1 |
NM_001002020.2 | 5 | 770 | NP_001002020.1 | |
NM_025215.5 | 5 | 1118 | NP_079491.2 | |
XM_011538768.2 | 4 | 383 | XP_011537070.1 | |
AF116238.1 | 4 | 478 | AAD21042.1 | |
AF318369.1 | 5 | 1110 | AAL55876.1 | |
AK074659.1 | 5 | 1118 | ||
AK292242.1 | 5 | 714 | ||
BC002901.2 | 5 | 684 | AAH02901.1 | |
BC009505.2 | 5 | 889 | ||
BC019320.1 | 5 | 889 | ||
BG336824.1 | 5 | 674 | ||
BM923133.1 | 5 | 747 | ||
BX340929.2 | 5 | 745 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv560930 | Chr.12:131819514 - 131990296 on Build GRCh38 | Loss |
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esv3631282 | Chr.12:131915190 - 132065739 on Build GRCh38 | Gain |
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esv2751042 | Chr.12:131776139 - 132005401 on Build GRCh38 | Gain |
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nsv560928 | Chr.12:131793985 - 132060098 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() ![]() |
esv3631281 | Chr.12:131909102 - 131947534 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)