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

Chr.16:2058425 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03933373_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 10
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 NARFL SNORA64 AXIN1 NTN3 NUBP2 NPRL3 HN1L RHBDF1 NME3 LMF1-AS1 CCNF CACNA1H GNG13 SSTR5 FAHD1 IGFALS TSC2 UBE2I BAIAP3 MIR662 PDIA2 AMDHD2 RAB26 METTL26 LINC00254 LOC105371046 LOC107987233 LOC106660606 LOC100134368 C16orf91 ARHGDIG HBQ1 LMF1 TPSB2 NTHL1 CCDC154 TPSG1 TPSD1 E4F1 TRAF7 MIR940 RGS11 NDUFB10 CLCN7 HBA1 METRN POLR3K PIGQ CRAMP1 DDX11L10 MIR4516 RPL23AP5 SNORD60 RPUSD1 PRSS27 NHLRC4 MIR6767 SOX8 RNPS1 FBXL16 MRPS34 PDPK1 HBA2 MIR3180-5 RHOT2 CASKIN1 GFER SNORA78 LOC652276 TMEM8A MIR3178 BRICD5 MLST8 RAB40C NME4 SNHG19 MSLN LOC105371038 HS3ST6 MIR6768 LOC100287175 ATP6V0C MIR3177 TELO2 SYNGR3 C16orf59 MIR3176 LOC729652 WASIR2 NPW MRPL28 LOC105371184 TMEM204 ZNF598 CHTF18 LUC7L TSR3 FAM173A ERVK13-1 MPG SNRNP25 RAB11FIP3 LOC107984876 ABCA3 TBL3 LOC105371049 SNORA10 PRR35 IFT140 MIR6511B1 SPSB3 CEMP1 HAGHL C1QTNF8 MEIOB DNASE1L2 PRR25 LINC00235 PKD1 GNPTG MCRIP2 WDR24 STUB1 RPS2 PTX4 CAPN15 ECI1 LOC105371047 EME2 PRSS29P SSTR5-AS1 CCDC78 TBC1D24 JMJD8 MSRB1 SLC9A3R2 ABCA17P HBM SNHG9 MIR5587 TPSAB1 MIR4717 NOXO1 HAGH MIR3677 RNF151 MIR6859-4 FAM234A HBZ KCTD5 RHBDL1 WFIKKN1 PGP DECR2 UNKL MAPK8IP3 WDR90 LOC101929280 LOC105371045 FLJ42627 RPL3L
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss MIR1225 NPW ZNF598 MIR4516 SNORD60 SLC9A3R2 ABCA3 RNPS1 TBL3 LOC105371049 TSC2 MIR3180-5 CASKIN1 MIR4717 NOXO1 RAB26 GFER MIR3677 MIR6511B1 LOC106660606 NTHL1 BRICD5 DNASE1L2 MLST8 PKD1 SNHG19 PGP E4F1 SYNGR3 ECI1 TRAF7 MIR940
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR1225 NOXO1 NPW SNORA64 GFER MIR6511B1 ZNF598 SNORA78 RNF151 NTHL1 MIR4516 PKD1 MSRB1 SLC9A3R2 HS3ST6 RPS2 TBL3 SYNGR3 LOC105371049 SNHG9 TSC2 SNORA10 RPL3L NDUFB10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR1225 NOXO1 NPW SNORA64 GFER MIR6511B1 ZNF598 SNORA78 RNF151 NTHL1 PKD1 SLC9A3R2 RPS2 TBL3 SYNGR3 LOC105371049 SNHG9 TSC2 SNORA10 NDUFB10
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR1225 SNORD60 RAB26 PKD1 SNHG19 MIR6511B1 LOC105371049 MIR4516 TSC2 MIR3180-5 TRAF7 CASKIN1

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