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

Chr.16:2061210 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03952036_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 13
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 PRSS29P PRR25 TRAF7 RNF151 GFER PDPK1 PGP NARFL SSTR5 MEIOB WASIR2 UBE2I BAIAP3 MIR3177 RPS2 POLR3K TMEM8A MIR4516 SOX8 LOC729652 MPG NTHL1 PIGQ PRR35 KCTD5 TELO2 METRN RHBDL1 SPSB3 ZNF598 GNPTG CCDC154 TSC2 LMF1-AS1 HBA2 RAB26 DDX11L10 CCNF CRAMP1 MIR6768 ARHGDIG JMJD8 RAB40C C16orf59 TSR3 CCDC78 RNPS1 MSRB1 NOXO1 LOC652276 C1QTNF8 PKD1 LOC105371038 MRPS34 LOC105371049 RAB11FIP3 MIR3178 MIR3677 SNORA78 AXIN1 GNG13 FBXL16 MIR6859-4 CAPN15 HAGHL MIR5587 DNASE1L2 NPW SNORA64 HS3ST6 SNRNP25 TPSD1 MIR3180-5 IFT140 C16orf91 FLJ42627 RPUSD1 TMEM204 E4F1 NPRL3 SYNGR3 HBA1 LUC7L FAM173A FAHD1 PDIA2 LOC105371045 TPSG1 NME3 SNORA10 ABCA3 LOC105371046 STUB1 LOC100134368 HAGH LOC105371184 HBQ1 WFIKKN1 EME2 MIR3176 SLC9A3R2 LOC107984876 TPSB2 WDR24 LINC00235 RPL3L NHLRC4 WDR90 LMF1 ABCA17P NTN3 MCRIP2 ECI1 CEMP1 LOC106660606 HBZ RHBDF1 RPL23AP5 BRICD5 LOC100287175 NDUFB10 LINC00254 HBM PRSS27 TPSAB1 FAM234A RHOT2 CASKIN1 MIR940 HN1L MRPL28 UNKL PTX4 SNORD60 LOC107987233 METTL26 LOC105371047 ATP6V0C MAPK8IP3 AMDHD2 CHTF18 RGS11 SNHG19 MIR1225 LOC101929280 NME4 MSLN DECR2 ERVK13-1 MIR6511B1 MLST8 MIR662 CLCN7 IGFALS MIR6767 SSTR5-AS1 MIR4717 NUBP2 CACNA1H SNHG9 TBL3 TBC1D24
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss GFER NTHL1 TSC2 SYNGR3 SLC9A3R2 NOXO1 NPW TBL3 ZNF598
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion LOC105371049 HS3ST6 RNF151 MIR6511B1 GFER TSC2 SNORA10 SNORA78 NDUFB10 RPS2 MIR4516 MIR1225 NTHL1 SYNGR3 SLC9A3R2 MSRB1 NOXO1 SNHG9 NPW PKD1 RPL3L TBL3 SNORA64 ZNF598
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion LOC105371049 RNF151 MIR6511B1 GFER TSC2 SNORA10 SNORA78 NDUFB10 RPS2 MIR1225 NTHL1 SYNGR3 SLC9A3R2 NOXO1 SNHG9 NPW PKD1 TBL3 SNORA64 ZNF598
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNHG19 LOC105371049 TRAF7 MIR1225 MIR6511B1 SNORD60 TSC2 RAB26 MIR3180-5 CASKIN1 PKD1 MIR4516

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