Hs03938831_cn

• Gene Symbol: CLCN7
• Assay Reference Genome Location: Chr.16:1450206 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 1186
• Gene Name: chloride voltage-gated channel 7
• Gene Aliases: CLC-7, CLC7, OPTA2, OPTB4, PPP1R63
• Location: Chr.16:1444933-1475084 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLCN7	NM_001114331.2			NP_001107803.1
	NM_001287.5			NP_001278.1
	XM_011522354.1			XP_011520656.1
	AF224741.1			AAF34711.1
	AK056551.1
	AK122944.1
	AK128285.1	2	763
	AK291404.1
	AK292136.1
	AK304796.1
	AK315978.1
	BC006158.1			AAH06158.1
	BC012737.2			AAH12737.1
	Z67743.1			CAA91556.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv571161	Chr.16:1431019 - 1457987 on Build GRCh38	Gain	CCDC154 LOC105371045 CLCN7
esv2762143	Chr.16:1270592 - 1519404 on Build GRCh38	Gain	BAIAP3 C16orf91 PTX4 UBE2I IFT140 GNPTG CCDC154 LOC105371045 CLCN7 TELO2 UNKL TSR3
nsv471068	Chr.16:1439259 - 1460566 on Build GRCh38	Gain	CCDC154 CLCN7
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	HN1L PRSS29P LOC105371049 MLST8 MIR3176 MIR6859-4 NME3 FLJ42627 TBC1D24 C1QTNF8 NTHL1 MIR4717 FAM173A ABCA3 SSTR5-AS1 MIR6511B1 RNPS1 TELO2 MAPK8IP3 C16orf59 ABCA17P TRAF7 HS3ST6 CCDC78 RPL23AP5 SNRNP25 ERVK13-1 SNORD60 NDUFB10 TMEM204 HBA1 LOC105371047 TPSB2 SNORA64 PIGQ PGP WFIKKN1 TBL3 CHTF18 HAGH LOC105371046 RAB40C RPUSD1 MIR3180-5 RHBDF1 CACNA1H ZNF598 C16orf91 LOC107984876 MIR6767 SSTR5 FAHD1 BRICD5 HBZ E4F1 SPSB3 WASIR2 CCDC154 RAB26 MCRIP2 MSLN PDIA2 RAB11FIP3 LOC100134368 NTN3 ATP6V0C FBXL16 RHOT2 PRSS27 LOC107987233 MIR4516 CLCN7 PRR25 SLC9A3R2 PKD1 SNHG9 TSR3 LOC729652 CASKIN1 LOC101929280 METTL26 NOXO1 TPSG1 NPW TPSD1 PTX4 LINC00235 MEIOB GNPTG MIR3677 ECI1 GFER GNG13 MIR3177 LINC00254 UNKL HBM WDR24 CRAMP1 IFT140 PRR35 RPL3L SYNGR3 NUBP2 LOC105371038 LMF1 FAM234A DDX11L10 MPG MIR3178 LOC105371045 CEMP1 DNASE1L2 MSRB1 MRPS34 SNHG19 POLR3K METRN TPSAB1 IGFALS UBE2I EME2 RHBDL1 PDPK1 HBA2 RNF151 TMEM8A LOC652276 AXIN1 MIR6768 LOC105371184 NHLRC4 AMDHD2 SNORA10 LUC7L NME4 MIR662 HBQ1 MIR5587 RPS2 TSC2 MRPL28 LOC100287175 SNORA78 RGS11 LOC106660606 NARFL JMJD8 LMF1-AS1 ARHGDIG SOX8 NPRL3 BAIAP3 CAPN15 KCTD5 WDR90 DECR2 MIR1225 STUB1 MIR940 HAGHL CCNF
nsv471066	Chr.16:893361 - 1482836 on Build GRCh38	Loss	TPSD1 CACNA1H LMF1-AS1 C16orf91 PRSS29P LOC107984876 GNPTG LOC105371045 CLCN7 UNKL SSTR5 TSR3 TPSB2 SOX8 BAIAP3 C1QTNF8 TPSAB1 UBE2I SSTR5-AS1 CCDC154 LMF1 TPSG1
nsv952899	Chr.16:1142501 - 1535899 on Build GRCh38	Deletion	TPSD1 CACNA1H C16orf91 PRSS29P PTX4 GNPTG TMEM204 LOC105371045 CLCN7 UNKL LOC105371047 TSR3 TPSB2 BAIAP3 TPSAB1 UBE2I IFT140 CCDC154 TELO2 TPSG1
nsv817713	Chr.16:1426464 - 1460566 on Build GRCh38	Loss	CCDC154 LOC105371045 CLCN7
nsv819844	Chr.16:1401518 - 1457987 on Build GRCh38	Gain	C16orf91 CCDC154 LOC105371045 CLCN7 UNKL

More Information

Additional Information:

For this assay, SNP(s) [rs75926907] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

transport
response to pH
ion transmembrane transport
chloride transmembrane transport
regulation of anion transmembrane transport

Function(s)

voltage-gated chloride channel activity
chloride channel activity
ATP binding
antiporter activity
chloride ion binding