Hs03937805_cn

• Gene Symbol: TBC1D24
• Assay Reference Genome Location: Chr.16:2484809 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 57465
• Gene Name: TBC1 domain family member 24
• Gene Aliases: DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6
• Location: Chr.16:2475104-2509669 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D24	NM_001199107.1			NP_001186036.1
	NM_020705.2			NP_065756.1
	XM_017023493.1			XP_016878982.1
	XM_017023494.1			XP_016878983.1
	XM_017023495.1			XP_016878984.1
	AB032997.1
	BC112389.1			AAI12390.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422427	Chr.16:10001 - 2723164 on Build GRCh38	Duplication	FLJ42627 FAHD1 MLST8 SNORD60 AMDHD2 MIR4717 LOC105371046 RNPS1 TPSD1 HAGH MSLN LOC729652 SNHG19 MIR662 RAB11FIP3 NME4 GFER RHBDL1 PDPK1 RPUSD1 TSC2 WASIR2 LUC7L MIR3176 CCDC78 RHBDF1 RAB40C MRPS34 PKD1 HBA2 RAB26 LOC105371045 MEIOB ARHGDIG LOC105371047 RPS2 MPG BAIAP3 HBM GNG13 MIR4516 TRAF7 LOC106660606 NPRL3 STUB1 MCRIP2 ATP6V0C MIR6859-4 LOC100287175 SNORA78 MAPK8IP3 NTN3 GNPTG PDIA2 RNF151 AXIN1 SSTR5 PTX4 LOC105371184 LOC107984876 SPSB3 NARFL MIR6767 HBA1 HBZ LINC00254 JMJD8 HN1L LOC105371049 LOC105371038 RPL3L EME2 CEMP1 RPL23AP5 LOC100134368 LINC00235 PRSS29P CASKIN1 TMEM8A DNASE1L2 SNORA64 LOC101929280 MIR940 SNORA10 POLR3K IFT140 TPSAB1 WDR90 FAM234A WDR24 E4F1 RGS11 FAM173A ABCA3 CCDC154 NUBP2 TSR3 CACNA1H MIR1225 SNRNP25 LMF1 NTHL1 METRN KCTD5 LOC107987233 ZNF598 TMEM204 HBQ1 NME3 TPSG1 MIR3177 PRSS27 SNHG9 LMF1-AS1 C16orf91 MRPL28 FBXL16 ERVK13-1 MIR3677 ABCA17P NHLRC4 MSRB1 SYNGR3 DDX11L10 HAGHL MIR5587 MIR3180-5 RHOT2 CRAMP1 TBC1D24 PRR35 WFIKKN1 PRR25 NDUFB10 TELO2 DECR2 TBL3 SSTR5-AS1 C1QTNF8 NPW UBE2I BRICD5 CHTF18 UNKL PGP CCNF MIR6511B1 CAPN15 MIR3178 PIGQ LOC652276 NOXO1 TPSB2 SLC9A3R2 MIR6768 SOX8 ECI1 HS3ST6 CLCN7 IGFALS METTL26 C16orf59
nsv1052260	Chr.16:2074546 - 2629655 on Build GRCh38	Gain	MLST8 SNORD60 MIR3677 AMDHD2 ABCA17P MIR4717 MIR940 RNPS1 NTN3 MIR3180-5 LOC729652 SNHG19 TBC1D24 PDPK1 E4F1 TSC2 MIR6767 ABCA3 BRICD5 PKD1 RAB26 LOC105371049 MIR1225 PGP CCNF MIR6511B1 MIR3178 LOC652276 CEMP1 MIR6768 MIR4516 TRAF7 LOC106660606 ECI1 CASKIN1 C16orf59 DNASE1L2 ATP6V0C
nsv833121	Chr.16:2360975 - 2518228 on Build GRCh38	Loss	MIR6768 ABCA17P TBC1D24 CCNF NTN3 MIR6767 LOC729652 C16orf59 ATP6V0C

More Information

Additional Information:

For this assay, SNP(s) [rs146714463] 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 -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

neuron projection development
positive regulation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding