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

Chr.21:43759681 on build GRCh38
Cytoband
Assay ID Hs01193337_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 8566

Gene Name:

 pyridoxal kinase

Gene Aliases:

 C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79

Location:

 Chr.21:43719129-43762299 on Build GRCh38

Assay Gene Location:

 Within Exon 19
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PDXK NM_001331030.2 10 4502 NP_001317959.1
NM_003681.5 11 4723 NP_003672.1
XM_005261195.3 11 4907 XP_005261252.2
XM_005261196.4 11 4599 XP_005261253.1
XM_005261199.3 11 4488 XP_005261256.1
XM_011529761.2 10 4466 XP_011528063.1
XM_047441001.1 12 5436 XP_047296957.1
XM_047441002.1 10 4525 XP_047296958.1
XM_047441003.1 9 4471 XP_047296959.1
XM_047441004.1 12 7518 XP_047296960.1
XM_047441005.1 12 7660 XP_047296961.1
XM_047441006.1 11 4488 XP_047296962.1
AK027018.1
AL137632.1 1 653
AL161960.1 1 2299
DA116202.1 1 316
DA736443.1 1 49
EU794642.1 11 4755 ACJ13696.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2025-12-01, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv509799 Chr.21:43724009 - 43852846 on Build GRCh38 Insertion AATBC CSTB RRP1 PDXK
nsv834108 Chr.21:43758156 - 43949760 on Build GRCh38 Loss AATBC CSTB RRP1 PDXK AGPAT3
nsv4273762 Chr.21:43680575 - 43762549 on Build GRCh38 Duplication PDXK RRP1B
dgv7874n54 Chr.21:43708309 - 43771258 on Build GRCh38 Gain PDXK
nsv953642 Chr.21:43731220 - 43827719 on Build GRCh38 Deletion AATBC CSTB RRP1 PDXK
nsv834107 Chr.21:43735444 - 43874665 on Build GRCh38 Loss AATBC CSTB RRP1 PDXK AGPAT3
nsv470904 Chr.21:43731164 - 43838166 on Build GRCh38 Loss AATBC CSTB RRP1 PDXK
esv33817 Chr.21:43749531 - 44647625 on Build GRCh38 Loss KRTAP10-1 TRPM2-AS TSPEAR KRTAP10-2 KRTAP10-11 KRTAP10-3 KRTAP10-8 KRTAP10-6 CFAP410 PDXK LOC105372832 LINC02575 AGPAT3 KRTAP10-9 LINC01678 DNMT3L AATBC KRTAP10-4 CSTB KRTAP10-5 DNMT3L-AS1 TSPEAR-AS2 GATD3 LRRC3 AIRE TRAPPC10 PWP2 TRPM2 ICOSLG KRTAP10-10 RRP1 LRRC3-DT PFKL TSPEAR-AS1 KRTAP10-7
nsv520305 Chr.21:43756077 - 43826445 on Build GRCh38 Loss AATBC CSTB RRP1 PDXK

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