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See other HYLS1 CNV Assays ›
Gene Symbol
HYLS1
Assay Reference Genome
Location

Chr.11:125899900 on build GRCh38
Cytoband
11q24.2
Assay ID Hs03025664_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 219844

Gene Name:

 HYLS1, centriolar and ciliogenesis associated

Gene Aliases:

 HLS

Location:

 Chr.11:125883614-125900646 on Build GRCh38

Assay Gene Location:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HYLS1 NM_001134793.1 3 1313 NP_001128265.1
NM_145014.2 4 1066 NP_659451.1
XM_005271430.2 2 1263 XP_005271487.1
XM_006718777.3 2 580 XP_006718840.1
XM_011542659.2 2 741 XP_011540961.1
XM_017017320.1 3 1032 XP_016872809.1
XM_017017321.1 3 1029 XP_016872810.1
AK057477.1 4 1068 BAB71503.1
AK127394.1 3 1316
BC015047.1 3 654 AAH15047.1

Target Gene Details

Entrez Gene ID:

 83480

Gene Name:

 pseudouridylate synthase 3

Gene Aliases:

 2610020J05Rik, FKSG32

Location:

 Chr.11:125893485-125903774 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PUS3 NM_001271985.1 NP_001258914.1
NM_031307.3 NP_112597.3
XM_005271687.3 XP_005271744.1
XM_005271688.3 XP_005271745.1
AK055702.1 BAB70990.1
AK314251.1
BC004822.1 AAH04822.1
BM786445.1
CR982568.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv248n67 Chr.11:125843561 - 125919531 on Build GRCh38 Gain PUS3 HYLS1 LOC105369553 DDX25
nsv556525 Chr.11:125690285 - 125971104 on Build GRCh38 Gain PATE2 PATE1 PATE3 LOC338667 PUS3 HYLS1 LOC105369553 PATE4 DDX25 CDON
esv32964 Chr.11:125495069 - 126046387 on Build GRCh38 Gain+Loss PATE2 PATE1 FEZ1 DDX25 CHEK1 ACRV1 CDON STT3A-AS1 PATE3 LOC338667 LOC403312 PUS3 EI24 STT3A HYLS1 LOC105369553 PATE4

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More Information


Set Membership:

 Intragenic Exonic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Function(s) Process(es)


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