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

Chr.1:2030286 on build GRCh38
Cytoband
1p36.33
Assay ID Hs00781621_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 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GABRD NM_000815.4 9 1458 NP_000806.2
XM_011541194.2 9 3370 XP_011539496.1
XM_017000936.1 8 4504 XP_016856425.1
AF016917.1 AAB70007.1
AI828107.1 1 464
AI936907.1 1 464
AK290861.1 9 1439
BC033801.1 9 1374 AAH33801.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3577697 Chr.1:2028174 - 2045349 on Build GRCh38 Loss GABRD
nsv951425 Chr.1:2018162 - 2112261 on Build GRCh38 Deletion PRKCZ LOC105378591 GABRD
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss LOC105378589 ANKRD65 ATAD3C MTND1P23 OR4F5 TTLL10 LOC107984841 SLC35E2B SSU72 MIR6727 MIR1302-2 LOC107985728 LOC284600 MMP23B GABRD SKI MIR6808 LOC729737 TTLL10-AS1 SAMD11 CFAP74 DVL1 UBE2J2 LOC101928626 LOC105378947 B3GALT6 SCNN1D FAM132A CALML6 LOC100134822 TNFRSF18 FAM41C OR4F16 HES4 LINC01342 GNB1 MXRA8 ATAD3A PERM1 ISG15 PLEKHN1 MIR429 NADK FNDC10 MIR200A AURKAIP1 PRKCZ SDF4 TMEM52 OR4F29 FAM87B PUSL1 LOC100133331 FAM138A MIR6859-2 VWA1 LOC105378592 CPTP LOC100130417 C1orf159 MRPL20 LOC148413 TMEM240 MIR6859-1 ACAP3 AGRN SLC35E2 DDX11L1 CDK11B LOC105378949 CPSF3L MMP23A LOC105378948 CCNL2 MTND2P28 TMEM88B LOC102724312 RNF223 LINC01128 MORN1 LOC100506504 LOC102725121 NOC2L LOC100288175 LOC100132287 KLHL17 TNFRSF4 LOC105378591 LINC00115 MIR6726 FAAP20 MIB2 MIR6723 LOC100287934 ATAD3B CDK11A LOC100129534 MIR200B TAS1R3 LOC107985729 LOC100288069 WASH7P
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss CFAP74 PRKCZ LOC105378591 GABRD LOC105378589
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss LOC105378589 TMEM88B ANKRD65 LOC102724312 ATAD3C VWA1 GNB1 SLC35E2B SSU72 MRPL20 ATAD3A LOC148413 MMP23B LOC105378591 TMEM240 GABRD SLC35E2 NADK FNDC10 MIB2 ATAD3B CFAP74 PRKCZ CDK11A TMEM52 CDK11B LOC107985729 LOC105378949 MMP23A CCNL2 CALML6

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