Product Details

Assay Reference Genome
Location

Chr.1:16987628 on build GRCh38
Cytoband
1p36.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
23400
Gene Symbol
ATP13A2
Gene Name
ATPase 13A2
Gene Aliases
CLN12, HSA9947, KRPPD, PARK9
Location
Chr.1:16985958-17011972 on build GRCh38
Assay Gene Location
Within Intron 25
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
ATP13A2 NM_001141973.2 NP_001135445.1
NM_001141974.2 NP_001135446.1
NM_022089.3 NP_071372.1
XM_005245810.1 XP_005245867.1
XM_005245811.1 XP_005245868.1
XM_005245812.1 XP_005245869.1
XM_005245815.1 XP_005245872.1
XM_006710512.1 XP_006710575.1
XM_006710513.1 XP_006710576.1
XM_011541128.1 XP_011539430.1
XM_011541129.1 XP_011539431.1
XM_017000844.1 XP_016856333.1
XM_017000845.1 XP_016856334.1
XM_017000846.1 XP_016856335.1
XM_017000847.1 XP_016856336.1
XM_017000848.1 XP_016856337.1
XM_017000849.1 XP_016856338.1
XM_017000850.1 XP_016856339.1
AJ009947.1 CAA08912.1
AK025928.1
AK075310.1 BAC11539.1
AK290210.1
AL354615.1 CAB89728.1
AL833966.1 CAD38813.2
AY461712.1 AAR23423.1
BC030267.1 AAH30267.1
BC034575.1 AAH34575.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv508947 Chr1:16909817 - 17011115 on Build GRCh38 Insertion MFAP2 ATP13A2 CROCC
nsv954854 Chr1:16961106 - 17013905 on Build GRCh38 Deletion MFAP2 ATP13A2 CROCC
nsv428421 Chr1:16437838 - 17157486 on Build GRCh38 Gain+Loss RNU1-3 MIR3675 MST1L SPATA21 NECAP2 LOC105376796 CROCCP2 FAM231A ATP13A2 LOC102723383 FAM231B RNU1-1 ESPNP PADI2 MFAP2 CROCCP3 LOC100132147 LOC105376805 SDHB NBPF1 RNU1-2 MST1P2 CROCC RNU1-4
dgv108n100 Chr1:16850538 - 17010370 on Build GRCh38 Gain MFAP2 MIR3675 LOC105376805 ATP13A2 RNU1-2 CROCC
dgv92n100 Chr1:16684943 - 17003642 on Build GRCh38 Gain ESPNP MFAP2 MIR3675 MST1L LOC105376805 ATP13A2 LOC102723383 RNU1-2 CROCC RNU1-4
nsv834280 Chr1:16888218 - 17123006 on Build GRCh38 Loss PADI2 MFAP2 LOC105376805 SDHB ATP13A2 RNU1-2 CROCC
dgv120n100 Chr1:16890896 - 16997938 on Build GRCh38 Gain MFAP2 ATP13A2 RNU1-2 CROCC
nsv834269 Chr1:16855283 - 17038531 on Build GRCh38 Loss MFAP2 MIR3675 LOC105376805 SDHB ATP13A2 RNU1-2 CROCC

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