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Gene Symbol
GABRD
Assay Reference Genome
Location

Chr.1:2030637 on build GRCh38
Cytoband
1p36.33
Assay ID Hs01326269_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 1809 NP_000806.2
XM_011541194.2 9 3721 XP_011539496.1
XM_017000936.1 8 4855 XP_016856425.1
AI828107.1 1 113
AI936907.1 1 113
AK290861.1
AW291520.1 1 134
BC033801.1 9 1725 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 TTLL10-AS1 VWA1 LOC105378592 MRPL20 LINC01128 B3GALT6 CPSF3L ACAP3 MORN1 AGRN PERM1 SSU72 HES4 LOC100287934 SDF4 LOC100132287 MIR6726 OR4F29 LINC01342 LOC284600 DVL1 LOC100134822 KLHL17 WASH7P LOC100288069 LOC105378947 CDK11A ANKRD65 TTLL10 C1orf159 LOC105378591 MIR1302-2 MTND1P23 LOC107984841 TAS1R3 SAMD11 FAM138A ATAD3C MMP23A PRKCZ PUSL1 ATAD3B GNB1 LINC00115 MIR6808 LOC105378949 PLEKHN1 NADK LOC100288175 LOC100129534 MIR200A FAM87B MIR6859-2 SKI GABRD ATAD3A MIR6723 UBE2J2 NOC2L LOC105378589 MTND2P28 AURKAIP1 TNFRSF18 LOC100130417 TMEM240 MIR200B FAM41C RNF223 LOC100506504 MIR429 LOC148413 MIB2 MIR6727 SCNN1D LOC102724312 CDK11B LOC729737 LOC101928626 SLC35E2B LOC107985728 TMEM52 CALML6 ISG15 TMEM88B LOC105378948 SLC35E2 TNFRSF4 LOC100133331 OR4F16 MXRA8 CPTP LOC107985729 FAM132A OR4F5 FAAP20 CFAP74 CCNL2 MMP23B LOC102725121 MIR6859-1 FNDC10 DDX11L1
nsv834446 Chr.1:1960604 - 2156435 on Build GRCh38 Loss CFAP74 LOC105378591 GABRD LOC105378589 PRKCZ
esv2758913 Chr.1:1389149 - 2092899 on Build GRCh38 Gain+Loss VWA1 TMEM240 MRPL20 ATAD3B GNB1 LOC148413 LOC105378949 SSU72 NADK MIB2 LOC102724312 CDK11B LOC107985729 SLC35E2B CFAP74 GABRD TMEM52 ATAD3A CALML6 CCNL2 MMP23B CDK11A ANKRD65 TMEM88B LOC105378591 SLC35E2 FNDC10 LOC105378589 ATAD3C MMP23A PRKCZ

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