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

Chr.1:2021712 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03351194_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:

 Overlaps Intron 1 - Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GABRD NM_000815.4 NP_000806.2
XM_011541194.2 XP_011539496.1
XM_017000936.1 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 PLEKHN1 GABRD MIR6859-2 UBE2J2 DVL1 CDK11A MIR6727 LOC100134822 MRPL20 TAS1R3 ACAP3 FAM87B TNFRSF18 B3GALT6 LINC00115 LOC100130417 LOC107985728 TMEM240 CPSF3L MMP23A MIR6808 DDX11L1 AGRN MORN1 LINC01342 C1orf159 ATAD3B TTLL10-AS1 MTND1P23 TMEM88B LOC100287934 LOC107985729 LOC148413 LOC100288069 CDK11B SLC35E2B MXRA8 LOC101928626 FAM132A SKI LOC100129534 ISG15 MIR429 PRKCZ FNDC10 LOC284600 PERM1 ATAD3C NADK WASH7P MIR6859-1 LOC729737 LOC100133331 ANKRD65 FAM41C GNB1 LOC105378592 FAAP20 KLHL17 HES4 LOC107984841 LOC100132287 CCNL2 CALML6 SCNN1D ATAD3A CPTP LOC105378591 MIR6723 OR4F5 AURKAIP1 PUSL1 SAMD11 MIR200B MIR200A MMP23B LOC102724312 RNF223 TTLL10 TMEM52 TNFRSF4 LOC100288175 OR4F16 OR4F29 LOC105378949 SDF4 LOC105378947 LOC100506504 SSU72 LOC102725121 LINC01128 VWA1 SLC35E2 FAM138A LOC105378589 CFAP74 MIB2 MIR6726 NOC2L MIR1302-2 MTND2P28 LOC105378948
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss PRKCZ LOC105378589 GABRD LOC105378591 CFAP74
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss GABRD LOC107985729 LOC148413 SSU72 CCNL2 CDK11A CDK11B CALML6 SLC35E2B MRPL20 ATAD3A VWA1 LOC105378591 PRKCZ SLC35E2 LOC105378589 FNDC10 TMEM240 CFAP74 MIB2 ATAD3C MMP23A MMP23B LOC102724312 NADK TMEM52 ANKRD65 ATAD3B LOC105378949 TMEM88B GNB1

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