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

Chr.1:2030426 on build GRCh38
Cytoband
1p36.33
Assay ID Hs01517269_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 1598 NP_000806.2
XM_011541194.2 9 3510 XP_011539496.1
XM_017000936.1 8 4644 XP_016856425.1
AI828107.1 1 324
AI936907.1 1 324
AK290861.1 9 1579
AW291520.1
BC033801.1 9 1514 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 LOC105378591 GABRD PRKCZ
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss B3GALT6 FAM87B ATAD3A ISG15 SSU72 LOC105378947 LOC100506504 FAM41C VWA1 TMEM52 TMEM240 LOC102725121 CDK11A CALML6 LOC105378592 LOC100288069 MMP23B LOC100132287 SKI MTND2P28 LOC100288175 MIR6808 MIB2 GABRD MIR6726 FAM132A RNF223 LOC107984841 PLEKHN1 SAMD11 LOC100129534 HES4 ATAD3C MRPL20 MIR429 SLC35E2B TTLL10-AS1 AURKAIP1 CPSF3L LOC148413 KLHL17 OR4F16 TMEM88B MIR6859-1 SLC35E2 LOC100130417 SCNN1D MIR6727 OR4F5 MXRA8 LOC284600 UBE2J2 LOC105378949 DDX11L1 MIR6723 WASH7P LOC100287934 TTLL10 LOC107985728 MORN1 CDK11B LOC729737 LOC105378589 DVL1 FAAP20 MIR200A SDF4 C1orf159 TNFRSF18 PRKCZ LOC100134822 LINC00115 LOC107985729 LOC105378591 MIR6859-2 LOC101928626 ANKRD65 FNDC10 NOC2L PUSL1 PERM1 CCNL2 MIR200B CPTP LOC102724312 MMP23A LINC01128 OR4F29 ATAD3B MIR1302-2 LINC01342 FAM138A GNB1 MTND1P23 CFAP74 LOC100133331 LOC105378948 TAS1R3 TNFRSF4 AGRN NADK ACAP3
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss CFAP74 LOC105378591 GABRD PRKCZ LOC105378589
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss CCNL2 ATAD3A SSU72 LOC105378949 VWA1 TMEM52 TMEM240 ATAD3C CDK11B MRPL20 LOC105378589 LOC102724312 SLC35E2B MMP23A CDK11A CALML6 ATAD3B MMP23B LOC148413 PRKCZ GNB1 CFAP74 TMEM88B MIB2 LOC107985729 LOC105378591 SLC35E2 GABRD ANKRD65 NADK FNDC10

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