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See other PANK2 CNV Assays ›
Gene Symbol
PANK2
Assay Reference Genome
Location

Chr.20:3900272 on build GRCh38
Cytoband
20p13
Assay ID Hs07172448_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 80025

Gene Name:

 pantothenate kinase 2

Gene Aliases:

 C20orf48, HARP, HSS, NBIA1, PKAN

Location:

 Chr.20:3888839-3929882 on Build GRCh38

Assay Gene Location:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PANK2 NM_001324191.1 NP_001311120.1
NM_001324192.1 NP_001311121.1
NM_001324193.1 NP_001311122.1
NM_024960.5 NP_079236.3
NM_153638.3 NP_705902.2
NM_153640.3 NP_705904.1
NR_136715.1
XM_005260836.4 XP_005260893.3
XM_011529364.2 XP_011527666.1
XM_011529365.2 XP_011527667.1
XM_017028077.1 XP_016883566.1
XM_017028078.1 1 164 XP_016883567.1
XM_017028079.1 XP_016883568.1
AF494409.1 AAN32907.1
AK021791.1 BAB13897.1
AK097796.1 BAC05173.1
AK310190.1
AL519408.3
AL532307.3
BC065019.1 AAH65019.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3645053 Chr.20:3849918 - 3987827 on Build GRCh38 Loss MIR103A2 MIR103B2 MAVS PANK2 RNF24
nsv828676 Chr.20:3898474 - 3902974 on Build GRCh38 Loss PANK2
esv3645059 Chr.20:3898170 - 3904490 on Build GRCh38 Loss PANK2
dgv776e199 Chr.20:3898151 - 3904682 on Build GRCh38 Deletion PANK2
esv2722123 Chr.20:3898160 - 3904528 on Build GRCh38 Deletion PANK2
nsv828673 Chr.20:3738382 - 4184811 on Build GRCh38 Gain SPEF1 AP5S1 C20orf27 HSPA12B MIR103A2 MAVS CDC25B RNF24 SMOX MIR103B2 CENPB LOC101929125 PANK2
esv3645060 Chr.20:3899237 - 3901193 on Build GRCh38 Loss PANK2

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