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

Chr.16:2052979 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03941216_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:

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

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