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Gene Symbol
GABRD
Assay Reference Genome
Location

Chr.1:2030004 on build GRCh38
Cytoband
1p36.33
Assay ID Hs02062099_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 8 - Exon 9
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

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

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