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

Chr.1:2023076 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03360811_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 2563

Gene Name:

 gamma-aminobutyric acid type A receptor delta subunit

Gene Aliases:

 EIG10, EJM7, GEFSP5

Location:

 Chr.1:2019329-2030753 on Build GRCh38

Assay Gene Location:

 Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GABRD NM_000815.4 NP_000806.2
XM_011541194.2 1 1347 XP_011539496.1
XM_017000936.1 1 1344 XP_016856425.1
AF016917.1 AAB70007.1
AK290861.1
BC033801.1 AAH33801.1
BI824761.1
DA060315.1
DA064930.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv951425 Chr.1:2018162 - 2112261 on Build GRCh38 Deletion PRKCZ GABRD LOC105378591
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss FAM132A MIR6727 LINC01342 KLHL17 LOC100287934 LOC107985728 CPTP MIR6808 MMP23B LOC102724312 GABRD MTND2P28 ATAD3C LOC100288175 TMEM88B PLEKHN1 B3GALT6 MTND1P23 SLC35E2B SSU72 LOC100506504 ANKRD65 LOC100129534 LINC00115 HES4 LOC101928626 CDK11A MORN1 TNFRSF4 GNB1 AURKAIP1 MIR200A TTLL10 TNFRSF18 LOC107985729 MIR6859-1 ATAD3B CCNL2 LOC100288069 VWA1 MRPL20 WASH7P RNF223 LOC107984841 OR4F16 LOC105378592 SLC35E2 SKI LOC729737 FAM87B LOC105378589 TTLL10-AS1 MIB2 LOC148413 TMEM240 MIR6859-2 NADK SAMD11 FAM138A MXRA8 TAS1R3 MIR429 LOC105378948 FAM41C SDF4 LINC01128 CALML6 DDX11L1 LOC100133331 CFAP74 LOC100134822 NOC2L MIR6726 UBE2J2 LOC105378949 PERM1 DVL1 MIR200B AGRN LOC105378591 CDK11B LOC100130417 PRKCZ LOC105378947 MMP23A OR4F5 ISG15 PUSL1 ATAD3A MIR6723 MIR1302-2 TMEM52 LOC100132287 FNDC10 SCNN1D LOC102725121 ACAP3 LOC284600 CPSF3L OR4F29 FAAP20 C1orf159
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss CFAP74 PRKCZ GABRD LOC105378589 LOC105378591
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss NADK GNB1 LOC105378591 CDK11B MMP23B LOC102724312 PRKCZ GABRD ATAD3C MMP23A LOC107985729 TMEM88B ATAD3B CCNL2 VWA1 MRPL20 SLC35E2B ATAD3A SSU72 CALML6 TMEM52 FNDC10 ANKRD65 CFAP74 SLC35E2 CDK11A LOC105378589 MIB2 LOC105378949 LOC148413 TMEM240

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