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See other TSC2 CNV Assays ›
Gene Symbol
TSC2
Assay Reference Genome
Location

Chr.16:2056572 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03936291_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 7249

Gene Name:

 tuberous sclerosis 2

Gene Aliases:

 LAM, PPP1R160, TSC4

Location:

 Chr.16:2047804-2088720 on Build GRCh38

Assay Gene Location:

 Within Intron 8
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 NM_000548.4 NP_000539.2
NM_001077183.2 NP_001070651.1
NM_001114382.2 NP_001107854.1
NM_001318827.1 NP_001305756.1
NM_001318829.1 NP_001305758.1
NM_001318831.1 NP_001305760.1
NM_001318832.1 NP_001305761.1
XM_005255529.4 XP_005255586.2
XM_005255531.4 XP_005255588.2
XM_011522636.2 XP_011520938.1
XM_011522637.2 XP_011520939.1
XM_011522638.2 XP_011520940.2
XM_011522639.2 XP_011520941.1
XM_011522640.2 XP_011520942.1
XM_017023615.1 XP_016879104.1
XM_017023616.1 XP_016879105.1
XM_017023617.1 XP_016879106.1
XM_017023618.1 XP_016879107.1
AB210000.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BF194994.1
BX647816.1 CAI46010.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1
KJ535039.1
KJ535051.1
KJ535091.1
KJ535094.1
X75621.1 CAA53287.1

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 ARHGDIG MIR662 FBXL16 IFT140 TPSAB1 ABCA3 WASIR2 AXIN1 RPL23AP5 RHBDF1 CCDC78 RHOT2 NUBP2 MIR3177 PRR35 TBL3 CCDC154 ZNF598 LMF1-AS1 GNPTG CLCN7 TPSG1 FLJ42627 SLC9A3R2 SNRNP25 FAM173A DNASE1L2 MIR6768 WDR90 ERVK13-1 RAB11FIP3 HBA1 RGS11 PKD1 HBA2 LOC105371046 RAB40C JMJD8 MIR6511B1 CACNA1H SOX8 LOC105371038 SNORA78 LOC105371047 RPUSD1 FAM234A RNPS1 MIR3176 DDX11L10 CAPN15 MPG LMF1 NARFL PTX4 RAB26 RNF151 NOXO1 C1QTNF8 E4F1 MIR3180-5 NPRL3 CASKIN1 C16orf59 KCTD5 DECR2 GFER PRSS27 TSC2 MIR940 TRAF7 LOC652276 FAHD1 MEIOB CRAMP1 WFIKKN1 HBZ MRPS34 MSLN LOC729652 WDR24 SNORA64 HAGHL NHLRC4 AMDHD2 TELO2 ABCA17P MLST8 RHBDL1 TPSD1 NPW MAPK8IP3 C16orf91 IGFALS MIR6859-4 SNHG9 NTHL1 RPL3L NTN3 LOC100134368 TPSB2 TBC1D24 SSTR5 PRSS29P NDUFB10 GNG13 BRICD5 LOC105371049 LINC00235 LUC7L LINC00254 SNHG19 LOC106660606 SSTR5-AS1 SYNGR3 RPS2 PGP TMEM204 BAIAP3 CHTF18 MIR5587 SNORA10 HBM HN1L NME3 MIR3178 CEMP1 MIR6767 LOC100287175 HAGH LOC105371045 STUB1 ECI1 METRN LOC101929280 MCRIP2 PDPK1 LOC105371184 UBE2I MIR4516 NME4 PDIA2 EME2 ATP6V0C PRR25 METTL26 HS3ST6 TMEM8A POLR3K SPSB3 MIR1225 MRPL28 PIGQ HBQ1 UNKL SNORD60 LOC107987233 LOC107984876 MIR4717 MIR3677 TSR3 CCNF MSRB1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss ABCA3 RNPS1 ECI1 MLST8 NPW RAB26 MIR4516 TBL3 NOXO1 NTHL1 ZNF598 E4F1 SLC9A3R2 MIR3180-5 CASKIN1 GFER DNASE1L2 BRICD5 TSC2 MIR940 TRAF7 LOC105371049 MIR1225 SNHG19 PKD1 LOC106660606 SYNGR3 PGP SNORD60 MIR4717 MIR3677 MIR6511B1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNORA64 SNORA78 SLC9A3R2 NDUFB10 HS3ST6 GFER TSC2 LOC105371049 MIR1225 NPW PKD1 MIR4516 SYNGR3 RPS2 RNF151 SNHG9 TBL3 NOXO1 NTHL1 ZNF598 MIR6511B1 RPL3L SNORA10 MSRB1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA64 SNORA78 SLC9A3R2 NDUFB10 GFER TSC2 LOC105371049 MIR1225 NPW PKD1 SYNGR3 RPS2 RNF151 SNHG9 TBL3 NOXO1 NTHL1 ZNF598 MIR6511B1 SNORA10
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNHG19 PKD1 RAB26 MIR4516 MIR3180-5 CASKIN1 SNORD60 MIR6511B1 TSC2 TRAF7 LOC105371049 MIR1225

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