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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 FAM234A PRSS29P SOX8 MCRIP2 LOC105371046 CAPN15 MIR3176 TELO2 MIR6768 HBZ LUC7L AXIN1 TPSAB1 ABCA3 RAB40C RPL3L FLJ42627 LOC101929280 NUBP2 CACNA1H GNG13 TPSD1 MIR4717 LOC105371047 IGFALS SNHG9 MSRB1 NTN3 LOC107987233 MPG PDIA2 FAHD1 HS3ST6 MIR3178 GFER CCNF LOC107984876 CLCN7 HAGHL LOC100287175 PKD1 SLC9A3R2 SPSB3 MIR3677 JMJD8 MSLN RHBDF1 ARHGDIG UBE2I CRAMP1 HAGH LOC100134368 TMEM204 POLR3K SNRNP25 RPL23AP5 RAB26 MAPK8IP3 LINC00235 CASKIN1 TPSG1 MIR662 FBXL16 TBC1D24 PRR25 LOC105371184 LOC106660606 SSTR5-AS1 LMF1-AS1 MRPS34 MIR6859-4 SYNGR3 RPS2 NOXO1 RPUSD1 SNORA78 RHBDL1 CCDC154 MIR6767 RGS11 STUB1 MLST8 PIGQ SNHG19 SSTR5 AMDHD2 TSR3 PRSS27 MIR1225 WDR90 NPRL3 DNASE1L2 RHOT2 ECI1 TMEM8A LOC652276 NPW BRICD5 MIR4516 LOC729652 ATP6V0C SNORA10 LOC105371049 DDX11L10 MIR940 CEMP1 MIR3177 KCTD5 RNF151 METTL26 ZNF598 WDR24 MEIOB SNORD60 DECR2 LOC105371045 PTX4 WFIKKN1 SNORA64 UNKL ABCA17P HBQ1 GNPTG LINC00254 WASIR2 CCDC78 TSC2 HBM TRAF7 PGP NHLRC4 PDPK1 MIR5587 EME2 E4F1 NME3 HN1L CHTF18 LOC105371038 TPSB2 TBL3 MRPL28 C1QTNF8 IFT140 METRN FAM173A C16orf59 HBA1 MIR3180-5 HBA2 BAIAP3 MIR6511B1 NDUFB10 PRR35 NARFL ERVK13-1 LMF1 C16orf91 NME4 RAB11FIP3 RNPS1 NTHL1
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MLST8 SLC9A3R2 SNHG19 MIR3677 MIR1225 DNASE1L2 TSC2 ECI1 TRAF7 PGP NPW BRICD5 RAB26 CASKIN1 ABCA3 MIR4516 E4F1 LOC105371049 LOC106660606 TBL3 MIR940 MIR4717 MIR3180-5 ZNF598 SYNGR3 NOXO1 MIR6511B1 SNORD60 GFER RNPS1 PKD1 NTHL1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SNORA10 LOC105371049 SLC9A3R2 TBL3 MIR1225 RNF151 SNHG9 MSRB1 TSC2 ZNF598 SYNGR3 RPS2 NOXO1 HS3ST6 MIR6511B1 NDUFB10 GFER SNORA78 NPW MIR4516 PKD1 RPL3L SNORA64 NTHL1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA10 LOC105371049 SLC9A3R2 TBL3 MIR1225 RNF151 SNHG9 TSC2 ZNF598 SYNGR3 RPS2 NOXO1 MIR6511B1 NDUFB10 GFER SNORA78 NPW PKD1 SNORA64 NTHL1
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss TSC2 LOC105371049 TRAF7 SNHG19 MIR6511B1 SNORD60 MIR1225 RAB26 CASKIN1 MIR4516 PKD1 MIR3180-5
esv3581937 Chr.16:2072340 - 2074457 on Build GRCh38 Loss TSC2

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