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 Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PUS1 | NM_001002019.2 | NP_001002019.1 | ||
NM_001002020.2 | NP_001002020.1 | |||
NM_025215.5 | NP_079491.2 | |||
XM_011538768.2 | XP_011537070.1 | |||
XM_011538769.2 | XP_011537071.1 | |||
AF116238.1 | AAD21042.1 | |||
AF318369.1 | AAL55876.1 | |||
AK074659.1 | ||||
AK292242.1 | ||||
BC002901.2 | AAH02901.1 | |||
BC009505.2 | ||||
BC019320.1 | ||||
BG336824.1 | ||||
BM923133.1 | ||||
BX340929.2 | ||||
CB118952.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv826561 | Chr.12:131827412 - 131930739 on Build GRCh38 | Gain |
![]() ![]() ![]() |
nsv560930 | Chr.12:131819514 - 131990296 on Build GRCh38 | Loss |
![]() ![]() ![]() ![]() |
nsv455803 | Chr.12:131748598 - 131937699 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() |
nsv942 | Chr.12:131906169 - 131935050 on Build GRCh38 | Insertion |
![]() ![]() |
esv3631282 | Chr.12:131915190 - 132065739 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() |
esv2751042 | Chr.12:131776139 - 132005401 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() |
nsv560928 | Chr.12:131793985 - 132060098 on Build GRCh38 | Gain |
![]() ![]() ![]() ![]() ![]() ![]() |
esv3631281 | Chr.12:131909102 - 131947534 on Build GRCh38 | Gain |
![]() ![]() |
nsv455804 | Chr.12:131842314 - 131934988 on Build GRCh38 | Loss |
![]() ![]() ![]() |
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
![]() ![]() ![]() ![]() |
Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)