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

Chr.16:2058974 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03929749_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 11
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
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 MIR1225 TBC1D24 LOC105371047 WDR24 UBE2I LOC107987233 PRR25 FAHD1 SNHG19 MIR3677 PRR35 SOX8 HS3ST6 LOC100287175 HBA1 SLC9A3R2 NME3 POLR3K LOC105371184 PTX4 ATP6V0C RPUSD1 SNRNP25 MIR6511B1 HBQ1 ZNF598 PKD1 C16orf59 LMF1 RNF151 TPSG1 NPW CAPN15 DDX11L10 FAM173A MIR6768 HAGH CCDC78 PGP MEIOB CLCN7 KCTD5 SNHG9 BAIAP3 TMEM8A SNORA78 CHTF18 NPRL3 MIR4717 SSTR5-AS1 LOC105371038 LOC729652 RHOT2 GFER SYNGR3 CCDC154 TPSD1 TMEM204 UNKL RGS11 MIR6767 RAB11FIP3 LOC106660606 CCNF IFT140 SPSB3 MIR4516 WASIR2 FAM234A LOC105371049 CASKIN1 RAB40C NUBP2 C16orf91 LOC100134368 NOXO1 MLST8 MRPL28 LOC105371045 HBZ NME4 PIGQ GNG13 LOC105371046 LOC652276 E4F1 LOC107984876 TSC2 MSRB1 STUB1 ABCA17P TBL3 RHBDF1 MAPK8IP3 HBA2 CEMP1 BRICD5 METRN NARFL FLJ42627 C1QTNF8 MIR3176 MIR3177 MIR3178 SNORA64 MRPS34 TPSB2 ERVK13-1 HAGHL ABCA3 WDR90 CACNA1H PDPK1 TSR3 LINC00235 FBXL16 SNORD60 HN1L NHLRC4 NTN3 MIR5587 NDUFB10 RPL23AP5 WFIKKN1 MIR3180-5 LUC7L DNASE1L2 RPS2 ECI1 TRAF7 RHBDL1 PDIA2 ARHGDIG DECR2 RPL3L HBM LOC101929280 MCRIP2 PRSS27 AXIN1 IGFALS SSTR5 LINC00254 AMDHD2 MSLN CRAMP1 MPG RNPS1 TELO2 NTHL1 MIR6859-4 MIR662 GNPTG TPSAB1 JMJD8 SNORA10 PRSS29P RAB26 METTL26 EME2 LMF1-AS1 MIR940
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR1225 E4F1 PGP MIR3180-5 SNHG19 TSC2 DNASE1L2 MIR3677 ECI1 TBL3 MIR4717 TRAF7 BRICD5 SLC9A3R2 GFER SYNGR3 LOC106660606 MIR6511B1 RNPS1 NTHL1 ZNF598 ABCA3 PKD1 MIR4516 LOC105371049 CASKIN1 NPW NOXO1 MLST8 RAB26 SNORD60 MIR940
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 SNORA64 MIR6511B1 TSC2 MSRB1 SNHG9 NTHL1 ZNF598 RPS2 PKD1 MIR4516 SNORA78 LOC105371049 SNORA10 RNF151 TBL3 NPW NOXO1 HS3ST6 SLC9A3R2 GFER RPL3L SYNGR3 NDUFB10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 SNORA64 MIR6511B1 TSC2 SNHG9 NTHL1 ZNF598 RPS2 PKD1 SNORA78 LOC105371049 SNORA10 RNF151 TBL3 NPW NOXO1 SLC9A3R2 GFER SYNGR3 NDUFB10
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 PKD1 MIR4516 LOC105371049 CASKIN1 TRAF7 MIR3180-5 RAB26 MIR6511B1 SNHG19 SNORD60 TSC2

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