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

Chr.16:2071628 on build GRCh38
Cytoband
16p13.3
Assay ID Hs02212204_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 Overlaps Exon 20 - Intron 20
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 C1QTNF8 PRSS27 GFER NME4 LOC100287175 MSLN SSTR5-AS1 LOC105371046 CEMP1 EME2 MIR6768 IGFALS NHLRC4 RPL3L MRPS34 CLCN7 MEIOB LINC00254 GNPTG NOXO1 MIR4717 MSRB1 UBE2I POLR3K ZNF598 ABCA17P LUC7L BRICD5 JMJD8 PIGQ TPSAB1 TPSB2 SPSB3 TRAF7 CCDC154 LOC106660606 ERVK13-1 MIR3177 PRR35 CACNA1H TSR3 AMDHD2 RPUSD1 MIR940 DECR2 MPG PDPK1 STUB1 MRPL28 MIR5587 LOC105371049 NPW RGS11 CASKIN1 MIR662 HBA1 WASIR2 GNG13 CAPN15 DNASE1L2 TPSG1 PKD1 HS3ST6 NME3 SLC9A3R2 MIR3180-5 MIR3176 NTN3 SSTR5 PDIA2 RPS2 SNORA10 CCDC78 LOC105371045 LOC107984876 LOC105371038 RAB26 CHTF18 LOC729652 SOX8 MIR3178 ATP6V0C KCTD5 SYNGR3 FAM234A MCRIP2 FAM173A MIR1225 PGP MLST8 UNKL RPL23AP5 MIR6767 HAGHL AXIN1 MAPK8IP3 MIR6511B1 NPRL3 NARFL ABCA3 ECI1 NTHL1 HN1L HBQ1 CRAMP1 SNRNP25 LOC107987233 RHBDL1 TELO2 LOC105371184 C16orf91 BAIAP3 RHOT2 FLJ42627 WDR24 TMEM204 HBM NUBP2 LINC00235 LOC105371047 ARHGDIG MIR6859-4 FBXL16 HBZ MIR3677 PRR25 FAHD1 PTX4 LMF1-AS1 SNORD60 SNORA64 CCNF HBA2 NDUFB10 DDX11L10 RAB40C SNORA78 RAB11FIP3 LOC652276 SNHG19 TSC2 PRSS29P E4F1 TBL3 TPSD1 RNF151 MIR4516 HAGH TMEM8A WDR90 IFT140 C16orf59 TBC1D24 LMF1 WFIKKN1 LOC101929280 RHBDF1 METTL26 METRN SNHG9 LOC100134368 RNPS1
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss NOXO1 GFER TSC2 NTHL1 TBL3 NPW ZNF598 SYNGR3 SLC9A3R2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion NOXO1 MIR6511B1 GFER TSC2 NTHL1 MSRB1 TBL3 RNF151 ZNF598 PKD1 HS3ST6 MIR4516 SYNGR3 SLC9A3R2 MIR1225 LOC105371049 NPW RPS2 SNORA64 SNORA10 NDUFB10 SNHG9 RPL3L SNORA78
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion NOXO1 MIR6511B1 GFER TSC2 NTHL1 TBL3 RNF151 ZNF598 PKD1 SYNGR3 SLC9A3R2 MIR1225 LOC105371049 NPW RPS2 SNORA64 SNORA10 NDUFB10 SNHG9 SNORA78
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR6511B1 TRAF7 TSC2 SNORD60 LOC105371049 CASKIN1 PKD1 MIR4516 MIR3180-5 MIR1225 RAB26 SNHG19

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