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

Chr.1:2028278 on build GRCh38
Cytoband
1p36.33
Assay ID Hs01625583_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 Exon 6 - Intron 6
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

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

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