Hs01977983_cn

• Gene Symbol: GABRD
• Assay Reference Genome Location: Chr.1:2030536 on build GRCh38
• Cytoband: 1p36.33

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	1708	NP_000806.2
	XM_011541194.2	9	3620	XP_011539496.1
	XM_017000936.1	8	4754	XP_016856425.1
	AI828107.1	1	214
	AI936907.1	1	214
	AK290861.1	9	1689
	AW291520.1	1	235
	BC033801.1	9	1624	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	FNDC10 B3GALT6 LOC100130417 DDX11L1 LOC102725121 ISG15 CFAP74 TAS1R3 MMP23A MIR1302-2 KLHL17 LOC100132287 FAM132A PRKCZ ATAD3C LOC105378589 OR4F29 VWA1 CPTP LOC100133331 SKI SLC35E2 SSU72 TMEM52 LOC105378947 UBE2J2 LOC102724312 LOC100288069 MRPL20 LOC105378948 MTND1P23 MORN1 LOC100134822 LOC105378949 C1orf159 PERM1 MIR6723 SAMD11 MTND2P28 LOC105378592 TMEM88B ACAP3 LOC100288175 MIR6727 FAM41C CDK11B MIR200B FAM87B CCNL2 TNFRSF18 GNB1 TTLL10-AS1 DVL1 SLC35E2B MIR6808 MIB2 OR4F16 CPSF3L LOC100129534 MIR6859-1 LINC01128 LOC729737 AURKAIP1 TTLL10 GABRD TNFRSF4 LOC107985729 LOC100287934 MIR200A LOC148413 SCNN1D FAAP20 PUSL1 WASH7P SDF4 RNF223 LINC00115 AGRN ATAD3A LOC107984841 OR4F5 TMEM240 PLEKHN1 ATAD3B LOC101928626 MIR6726 LOC100506504 MIR429 HES4 MMP23B ANKRD65 CALML6 LOC107985728 MXRA8 LOC105378591 FAM138A MIR6859-2 CDK11A LOC284600 LINC01342 NADK NOC2L
nsv834446	Chr.1:1960604 - 2156435 on Build GRCh38	Loss	LOC105378591 GABRD PRKCZ LOC105378589 CFAP74
esv2758913	Chr.1:1389149 - 2092899 on Build GRCh38	Gain+Loss	LOC148413 CDK11B TMEM52 FNDC10 CCNL2 LOC102724312 MRPL20 GNB1 ATAD3A CFAP74 TMEM240 MMP23A SLC35E2B ATAD3B MIB2 MMP23B PRKCZ ANKRD65 LOC105378949 CALML6 ATAD3C LOC105378589 VWA1 LOC105378591 GABRD TMEM88B CDK11A SLC35E2 NADK SSU72 LOC107985729

More Information

Additional Information:

For this assay, SNP(s) [rs114770000] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Process(es)

transport
signal transduction
chemical synaptic transmission
chloride transmembrane transport

Function(s)

GABA-A receptor activity
extracellular ligand-gated ion channel activity
chloride channel activity
protein binding