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

Chr.16:2053919 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03935752_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 5
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
AK294548.1 4 901
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BF194994.1
BX647816.1 CAI46010.1
DA316794.1
DC402106.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1 3 803
KJ535039.1
KJ535051.1 3 803
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 JMJD8 RHOT2 NPRL3 MAPK8IP3 TPSD1 POLR3K MIR940 LOC101929280 CCDC78 CEMP1 IFT140 SNHG9 DDX11L10 MIR3677 LOC100287175 FAM234A MIR5587 TELO2 MIR4516 NHLRC4 HBA2 RGS11 MRPL28 LOC106660606 PDIA2 RNF151 MIR6511B1 C1QTNF8 HBA1 FLJ42627 STUB1 CCDC154 KCTD5 RPL23AP5 GNG13 METRN RPUSD1 CAPN15 TRAF7 MRPS34 IGFALS UNKL NTN3 CHTF18 METTL26 HAGHL UBE2I RHBDL1 LOC100134368 LOC105371049 NME3 NTHL1 DNASE1L2 LMF1 MIR3177 GNPTG LMF1-AS1 LOC105371184 CCNF NUBP2 RPS2 SPSB3 NARFL LOC105371038 MSRB1 ZNF598 FBXL16 PRR25 SNORA64 WDR24 HS3ST6 HAGH PTX4 PKD1 SNORA78 SYNGR3 MIR4717 MCRIP2 NDUFB10 SSTR5-AS1 AXIN1 PRR35 TPSG1 CRAMP1 BRICD5 NPW HBZ RHBDF1 MIR3178 SNRNP25 NME4 ARHGDIG WFIKKN1 LOC652276 SNHG19 BAIAP3 MEIOB MIR6767 SNORD60 SNORA10 CACNA1H TSR3 LOC105371046 LINC00235 C16orf91 MIR662 GFER SSTR5 MIR6859-4 HN1L ABCA3 SLC9A3R2 LUC7L RNPS1 MLST8 ABCA17P WDR90 MIR1225 PDPK1 FAM173A ECI1 HBM TMEM8A C16orf59 ATP6V0C RAB26 TBL3 PRSS29P NOXO1 TPSB2 LOC107984876 PGP TMEM204 SOX8 MIR3180-5 LOC105371045 RPL3L PRSS27 RAB40C LOC105371047 MIR6768 MIR3176 TPSAB1 LOC107987233 EME2 LINC00254 LOC729652 MSLN HBQ1 PIGQ TBC1D24 TSC2 FAHD1 ERVK13-1 MPG CASKIN1 WASIR2 RAB11FIP3 DECR2 E4F1 CLCN7 AMDHD2
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss GFER TSC2 NPW ZNF598 NOXO1 SYNGR3 NTHL1 SLC9A3R2 TBL3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion ZNF598 LOC105371049 NTHL1 SNORA64 SNORA10 RNF151 MIR6511B1 HS3ST6 TBL3 SNHG9 PKD1 GFER TSC2 SNORA78 NPW NOXO1 SYNGR3 RPS2 SLC9A3R2 MIR4516 NDUFB10 RPL3L MSRB1 MIR1225
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion ZNF598 LOC105371049 NTHL1 SNORA64 SNORA10 RNF151 MIR6511B1 TBL3 SNHG9 PKD1 GFER TSC2 SNORA78 NPW NOXO1 SYNGR3 RPS2 SLC9A3R2 NDUFB10 MIR1225

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