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

Chr.16:2056128 on build GRCh38
Cytoband
16p13.3
Assay ID Hs04454001_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 7
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
BF194994.1
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 CCDC154 MIR3176 BRICD5 SSTR5 MIR3677 MIR1225 NOXO1 NME3 HBA2 LINC00254 LINC00235 SYNGR3 ARHGDIG LOC105371038 PRR35 NPRL3 MIR3178 BAIAP3 TPSAB1 LOC106660606 MIR6767 CCDC78 MSLN HN1L RPS2 LOC652276 CASKIN1 DECR2 NTHL1 LOC107987233 FBXL16 MRPL28 RAB11FIP3 LOC105371045 PKD1 FLJ42627 SNRNP25 NUBP2 RPUSD1 SNHG9 WASIR2 ZNF598 ABCA17P DDX11L10 SNORA10 SSTR5-AS1 HBA1 UBE2I TSC2 LMF1 CAPN15 MIR6768 EME2 WDR24 LOC105371184 ABCA3 SPSB3 HAGHL NPW CHTF18 FAHD1 C16orf59 AXIN1 CEMP1 MEIOB WDR90 C1QTNF8 MPG AMDHD2 SLC9A3R2 PRR25 SOX8 WFIKKN1 RNPS1 TRAF7 HAGH PDPK1 RHBDF1 CRAMP1 TELO2 METRN RAB40C LOC100287175 SNHG19 RGS11 PRSS27 LUC7L RPL23AP5 GFER LOC729652 MIR940 TBC1D24 LOC105371047 NDUFB10 MIR5587 MIR4516 RNF151 HBQ1 MLST8 MSRB1 TBL3 IGFALS SNORA78 PDIA2 NHLRC4 UNKL DNASE1L2 CLCN7 PGP HS3ST6 RAB26 LOC107984876 RHOT2 MIR4717 POLR3K C16orf91 TPSG1 ECI1 LMF1-AS1 FAM173A IFT140 CCNF RHBDL1 MIR3180-5 GNG13 FAM234A MIR662 JMJD8 ERVK13-1 TMEM204 SNORA64 NTN3 LOC100134368 CACNA1H TPSB2 PTX4 MRPS34 METTL26 RPL3L PIGQ GNPTG KCTD5 SNORD60 NME4 TSR3 MIR6511B1 TMEM8A STUB1 E4F1 LOC105371049 MIR6859-4 PRSS29P NARFL MCRIP2 TPSD1 ATP6V0C MAPK8IP3 HBZ LOC101929280 LOC105371046 HBM MIR3177
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss SNHG19 MIR3180-5 ZNF598 BRICD5 MIR3677 GFER MIR1225 NOXO1 TSC2 MIR940 ABCA3 NPW SYNGR3 SNORD60 MIR4516 MLST8 TBL3 MIR6511B1 LOC106660606 E4F1 LOC105371049 SLC9A3R2 DNASE1L2 CASKIN1 PGP NTHL1 RAB26 MIR4717 RNPS1 TRAF7 PKD1 ECI1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR6511B1 ZNF598 LOC105371049 SNORA10 SLC9A3R2 SNORA64 RPS2 GFER MIR1225 NOXO1 TSC2 HS3ST6 NTHL1 RPL3L NPW SYNGR3 NDUFB10 PKD1 MIR4516 RNF151 MSRB1 TBL3 SNHG9 SNORA78
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR6511B1 ZNF598 LOC105371049 SNORA10 SLC9A3R2 SNORA64 RPS2 GFER MIR1225 NOXO1 TSC2 NTHL1 NPW SYNGR3 NDUFB10 PKD1 RNF151 TBL3 SNHG9 SNORA78
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNHG19 MIR6511B1 MIR3180-5 TRAF7 LOC105371049 SNORD60 PKD1 MIR4516 CASKIN1 MIR1225 TSC2 RAB26

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