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

Chr.16:2083390 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03948680_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 34
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
AK094152.1 1 694
AK125096.1
AK295672.1
AK295728.1
AK299343.1
BC025364.1 AAH25364.1
BC046929.1 AAH46929.1
BC150300.1
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 CAPN15 TBC1D24 NHLRC4 RHBDF1 ZNF598 MRPL28 LOC729652 PIGQ LMF1 MRPS34 MCRIP2 PGP UNKL C16orf59 SNORA64 SNORD60 AXIN1 WFIKKN1 CLCN7 RAB40C HBA2 SSTR5 RGS11 JMJD8 SPSB3 UBE2I TPSB2 MIR6767 CEMP1 FAM234A ATP6V0C AMDHD2 MIR3176 LINC00254 TSR3 WDR24 SNHG19 LOC105371047 LUC7L C1QTNF8 TPSD1 MIR3177 METTL26 LOC107987233 PRR35 MIR5587 RPL3L NPRL3 FLJ42627 PKD1 ECI1 RPUSD1 NME4 CRAMP1 METRN LOC106660606 MAPK8IP3 DECR2 RHBDL1 MPG MSLN GNPTG NARFL HBQ1 TMEM8A WDR90 FBXL16 C16orf91 PRSS29P MIR4717 IGFALS SLC9A3R2 TBL3 HAGHL RAB11FIP3 RPS2 TELO2 FAM173A IFT140 NUBP2 LOC105371046 DDX11L10 ARHGDIG ABCA17P CACNA1H WASIR2 LOC105371049 POLR3K RHOT2 HBZ MLST8 MIR662 CCDC154 NME3 LOC100287175 RNPS1 LOC652276 KCTD5 SNORA78 CCDC78 LOC105371045 HN1L CASKIN1 DNASE1L2 CHTF18 RPL23AP5 MIR6768 NOXO1 PRR25 MIR3178 CCNF GNG13 PDIA2 HBM SYNGR3 NPW HBA1 TPSG1 MIR4516 LOC101929280 ERVK13-1 LOC107984876 NDUFB10 HS3ST6 MIR3180-5 SNRNP25 TMEM204 SNORA10 NTHL1 TSC2 FAHD1 RNF151 GFER EME2 MIR3677 LOC105371184 HAGH SNHG9 BRICD5 LOC105371038 PTX4 NTN3 TRAF7 MIR940 PRSS27 ABCA3 TPSAB1 MSRB1 MEIOB SSTR5-AS1 MIR1225 MIR6859-4 RAB26 MIR6511B1 PDPK1 STUB1 LINC00235 SOX8 LOC100134368 E4F1 BAIAP3 LMF1-AS1
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss TSC2 GFER SYNGR3 ZNF598 SLC9A3R2 NPW TBL3 NOXO1 NTHL1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR4516 ZNF598 RPL3L NDUFB10 SLC9A3R2 HS3ST6 PKD1 TBL3 NOXO1 SNORA10 MSRB1 NTHL1 MIR1225 TSC2 RPS2 RNF151 GFER MIR6511B1 SYNGR3 NPW SNHG9 SNORA78 SNORA64 LOC105371049
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion ZNF598 NDUFB10 SLC9A3R2 PKD1 TBL3 NOXO1 SNORA10 NTHL1 MIR1225 TSC2 RPS2 RNF151 GFER MIR6511B1 SYNGR3 NPW SNHG9 SNORA78 SNORA64 LOC105371049
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNORD60 MIR1225 MIR4516 TSC2 CASKIN1 RAB26 MIR6511B1 TRAF7 MIR3180-5 PKD1 SNHG19 LOC105371049
nsv1052260 Chr.16:2074546 - 2629655 on Build GRCh38 Gain MIR4516 TBC1D24 MLST8 MIR3180-5 PKD1 LOC729652 ECI1 LOC106660606 TSC2 RNPS1 MIR3677 LOC652276 PGP BRICD5 C16orf59 SNORD60 NTN3 CASKIN1 DNASE1L2 TRAF7 MIR940 MIR4717 MIR6768 ABCA3 MIR3178 MIR1225 CCNF MIR6767 RAB26 CEMP1 ATP6V0C MIR6511B1 AMDHD2 PDPK1 E4F1 ABCA17P SNHG19 LOC105371049

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