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

Chr.1:2029195 on build GRCh38
Cytoband
1p36.33
Assay ID Hs01969851_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 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GABRD NM_000815.4 7 871 NP_000806.2
XM_011541194.2 7 2783 XP_011539496.1
XM_017000936.1 6 3917 XP_016856425.1
AF016917.1 7 776 AAB70007.1
AK290861.1 7 852
BC033801.1 7 787 AAH33801.1
BI824761.1 7 795

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

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