Product Details

Assay Reference Genome
Location

Chr.1:16998882 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 11
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
AK075310.1 BAC11539.1
AK290210.1
AL354615.1 CAB89728.1
AY461712.1 AAR23423.1
AY987009.1 AAX88804.1
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 CROCC ATP13A2
nsv428421 Chr1:16437838 - 17157486 on Build GRCh38 Gain+Loss FAM231B MFAP2 LOC100132147 RNU1-2 CROCC MIR3675 MST1L RNU1-3 NECAP2 CROCCP2 FAM231A CROCCP3 ESPNP SDHB LOC105376796 NBPF1 SPATA21 MST1P2 RNU1-4 LOC105376805 LOC102723383 PADI2 RNU1-1 ATP13A2
nsv954854 Chr1:16961106 - 17013905 on Build GRCh38 Deletion MFAP2 CROCC ATP13A2
dgv108n100 Chr1:16850538 - 17010370 on Build GRCh38 Gain LOC105376805 MFAP2 RNU1-2 CROCC MIR3675 ATP13A2
dgv92n100 Chr1:16684943 - 17003642 on Build GRCh38 Gain RNU1-4 LOC105376805 MFAP2 LOC102723383 RNU1-2 CROCC MIR3675 MST1L ATP13A2 ESPNP
nsv834280 Chr1:16888218 - 17123006 on Build GRCh38 Loss LOC105376805 MFAP2 RNU1-2 PADI2 CROCC ATP13A2 SDHB
nsv834269 Chr1:16855283 - 17038531 on Build GRCh38 Loss LOC105376805 MFAP2 RNU1-2 CROCC MIR3675 ATP13A2 SDHB

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