Product Details

Assay Reference Genome
Location

Chr.1:16992592 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 16 - Exon 17
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
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 ATP13A2 CROCC MFAP2
nsv954854 Chr1:16961106 - 17013905 on Build GRCh38 Deletion ATP13A2 CROCC MFAP2
nsv428421 Chr1:16437838 - 17157486 on Build GRCh38 Gain+Loss ESPNP MIR3675 SDHB LOC105376796 ATP13A2 RNU1-2 LOC105376805 NECAP2 FAM231A MST1P2 LOC102723383 PADI2 LOC100132147 CROCCP2 FAM231B CROCC NBPF1 MST1L RNU1-4 RNU1-1 MFAP2 CROCCP3 SPATA21 RNU1-3
dgv108n100 Chr1:16850538 - 17010370 on Build GRCh38 Gain MIR3675 ATP13A2 CROCC RNU1-2 LOC105376805 MFAP2
dgv92n100 Chr1:16684943 - 17003642 on Build GRCh38 Gain ESPNP MIR3675 ATP13A2 CROCC RNU1-2 MST1L LOC105376805 RNU1-4 LOC102723383 MFAP2
nsv834280 Chr1:16888218 - 17123006 on Build GRCh38 Loss SDHB ATP13A2 CROCC RNU1-2 LOC105376805 MFAP2 PADI2
dgv120n100 Chr1:16890896 - 16997938 on Build GRCh38 Gain ATP13A2 CROCC RNU1-2 MFAP2
nsv834269 Chr1:16855283 - 17038531 on Build GRCh38 Loss MIR3675 SDHB ATP13A2 CROCC RNU1-2 LOC105376805 MFAP2

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