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

Chr.16:2073581 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03946283_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 23
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
BX647816.1 CAI46010.1
DB288276.1
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 HBA1 MEIOB LOC106660606 MIR6768 C16orf91 GFER ECI1 JMJD8 SOX8 RPS2 METTL26 MSRB1 NME4 TSR3 CCDC78 DDX11L10 MPG MIR3178 TBL3 AMDHD2 FAM173A FAHD1 LOC105371047 GNG13 LOC652276 NUBP2 DNASE1L2 CLCN7 TMEM204 WFIKKN1 DECR2 MIR4516 PRR35 MCRIP2 LOC729652 MSLN MRPL28 POLR3K AXIN1 ERVK13-1 RAB11FIP3 RNPS1 NHLRC4 CHTF18 LINC00254 MIR4717 PDPK1 TPSAB1 NTHL1 HN1L MIR1225 SNHG19 EME2 HAGH WDR90 HBM SNORD60 LMF1 TPSD1 RHBDF1 SPSB3 PRR25 FLJ42627 TMEM8A RPL23AP5 TSC2 MIR6859-4 LOC105371046 HS3ST6 TPSG1 GNPTG HAGHL LOC101929280 SNRNP25 KCTD5 FAM234A SLC9A3R2 CASKIN1 SNORA64 ATP6V0C RHOT2 ABCA3 NDUFB10 BAIAP3 RAB26 RAB40C LINC00235 ZNF598 NPW LOC105371045 FBXL16 MIR662 HBZ BRICD5 PGP MLST8 C16orf59 SNHG9 IGFALS LMF1-AS1 RPUSD1 MIR3677 MIR6511B1 CACNA1H MIR3180-5 MIR3177 RPL3L CCNF PIGQ E4F1 UBE2I METRN MRPS34 TBC1D24 WASIR2 LOC107984876 MIR940 IFT140 HBQ1 LOC105371184 SNORA10 PTX4 SSTR5 TPSB2 LOC105371049 RGS11 NME3 HBA2 LOC107987233 NOXO1 PRSS29P CEMP1 NPRL3 WDR24 TRAF7 LUC7L ARHGDIG LOC100287175 SNORA78 LOC100134368 TELO2 PRSS27 PDIA2 ABCA17P MIR3176 MIR5587 PKD1 STUB1 MAPK8IP3 SYNGR3 C1QTNF8 RHBDL1 LOC105371038 NTN3 CRAMP1 CAPN15 UNKL CCDC154 NARFL SSTR5-AS1 RNF151 MIR6767
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss SYNGR3 TSC2 NOXO1 NTHL1 GFER ZNF598 NPW SLC9A3R2 TBL3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion TSC2 SNORA64 SNORA78 NTHL1 SNORA10 GFER SNHG9 HS3ST6 LOC105371049 MIR4516 PKD1 MIR1225 MIR6511B1 NDUFB10 SYNGR3 RPS2 NOXO1 MSRB1 RPL3L ZNF598 NPW SLC9A3R2 TBL3 RNF151
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion TSC2 SNORA64 SNORA78 NTHL1 SNORA10 GFER SNHG9 LOC105371049 PKD1 MIR1225 MIR6511B1 NDUFB10 SYNGR3 RPS2 NOXO1 ZNF598 NPW SLC9A3R2 TBL3 RNF151
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss CASKIN1 TSC2 RAB26 MIR3180-5 SNORD60 TRAF7 LOC105371049 MIR4516 PKD1 MIR1225 SNHG19 MIR6511B1
esv3581937 Chr.16:2072340 - 2074457 on Build GRCh38 Loss TSC2

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