Product Details

Assay Reference Genome
Location

Chr.1:16996285 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
Overlaps Intron 13 - Intron 14
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
nsv954854 Chr1:16961106 - 17013905 on Build GRCh38 Deletion MFAP2 CROCC ATP13A2
nsv428421 Chr1:16437838 - 17157486 on Build GRCh38 Gain+Loss FAM231A LOC105376796 NECAP2 NBPF1 MFAP2 CROCC LOC105376805 RNU1-2 ESPNP RNU1-4 MIR3675 LOC100132147 RNU1-1 FAM231B LOC102723383 ATP13A2 SPATA21 PADI2 SDHB CROCCP2 RNU1-3 CROCCP3 MST1P2 MST1L
dgv108n100 Chr1:16850538 - 17010370 on Build GRCh38 Gain MFAP2 CROCC ATP13A2 LOC105376805 RNU1-2 MIR3675
dgv92n100 Chr1:16684943 - 17003642 on Build GRCh38 Gain MFAP2 CROCC LOC102723383 ATP13A2 LOC105376805 RNU1-2 ESPNP RNU1-4 MIR3675 MST1L
nsv834280 Chr1:16888218 - 17123006 on Build GRCh38 Loss MFAP2 CROCC ATP13A2 LOC105376805 RNU1-2 PADI2 SDHB
dgv120n100 Chr1:16890896 - 16997938 on Build GRCh38 Gain MFAP2 CROCC ATP13A2 RNU1-2
nsv834269 Chr1:16855283 - 17038531 on Build GRCh38 Loss MFAP2 CROCC ATP13A2 LOC105376805 RNU1-2 SDHB MIR3675

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