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See other CACNA1H CNV Assays ›
Gene Symbol
CACNA1H
Assay Reference Genome
Location

Chr.16:1170811 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03951077_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 8912

Gene Name:

 calcium voltage-gated channel subunit alpha1 H

Gene Aliases:

 CACNA1HB, Cav3.2, ECA6, EIG6

Location:

 Chr.16:1153241-1221772 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1H NM_001005407.1 NP_001005407.1
NM_021098.2 NP_066921.2
XM_005255652.4 XP_005255709.1
XM_006720963.3 XP_006721026.1
XM_006720964.3 XP_006721027.1
XM_006720965.3 XP_006721028.1
XM_006720967.3 XP_006721030.1
XM_006720968.3 XP_006721031.1
XM_011522727.2 XP_011521029.1
XM_017023819.1 XP_016879308.1
XM_017023820.1 XP_016879309.1
XM_017023821.1 XP_016879310.1
AF051946.3 AAC67239.3
AF073931.1 AAD17668.1
AJ420779.1 CAD12646.1

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 RPUSD1 LOC105371046 AXIN1 HAGH HBA1 LOC105371038 MIR3176 ABCA17P BRICD5 STUB1 RNF151 MIR3178 CAPN15 TBL3 MIR1225 RGS11 HBA2 CLCN7 GNPTG LINC00235 C16orf91 JMJD8 PRR35 RPS2 MIR662 PTX4 LMF1-AS1 EME2 ECI1 SOX8 GFER RHOT2 METTL26 DECR2 RPL3L SLC9A3R2 MCRIP2 SSTR5-AS1 RNPS1 ZNF598 NUBP2 LOC101929280 ARHGDIG RHBDL1 TSC2 TSR3 MIR940 FAHD1 PDPK1 LOC100134368 LOC105371047 METRN GNG13 NTHL1 HBZ NHLRC4 RAB11FIP3 WFIKKN1 MEIOB PRSS27 NDUFB10 CCNF LOC105371045 SNHG9 HN1L TRAF7 PKD1 SNHG19 LMF1 CHTF18 TBC1D24 WASIR2 MRPL28 ABCA3 E4F1 LOC106660606 BAIAP3 NPW TPSD1 FAM234A PIGQ IGFALS SNORA10 FBXL16 CRAMP1 LOC652276 NARFL RHBDF1 MSLN DNASE1L2 TPSB2 SSTR5 MLST8 CEMP1 CASKIN1 IFT140 MAPK8IP3 MIR4717 TMEM204 LOC105371184 MIR3180-5 HBQ1 LOC729652 PGP MIR4516 POLR3K MIR6768 NPRL3 RPL23AP5 C16orf59 MSRB1 TMEM8A UNKL LINC00254 CACNA1H CCDC154 AMDHD2 LOC107987233 C1QTNF8 MIR6859-4 MIR3177 HS3ST6 KCTD5 NME3 MIR5587 NOXO1 RAB26 ATP6V0C SPSB3 LUC7L HBM SNRNP25 SYNGR3 MRPS34 TELO2 DDX11L10 PRR25 PRSS29P NTN3 MIR6767 WDR24 UBE2I NME4 RAB40C WDR90 SNORA64 ERVK13-1 LOC107984876 MIR3677 SNORA78 TPSAB1 SNORD60 FAM173A TPSG1 MIR6511B1 FLJ42627 HAGHL CCDC78 LOC105371049 LOC100287175 PDIA2 MPG
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TPSAB1 GNPTG UNKL LMF1 TPSG1 TSR3 TPSB2 CACNA1H SSTR5 LMF1-AS1 SOX8 BAIAP3 PRSS29P C1QTNF8 UBE2I TPSD1 SSTR5-AS1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSAB1 PRSS29P TPSD1 TPSG1 TPSB2 CACNA1H
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion C1QTNF8 TPSG1 CACNA1H SSTR5-AS1 SSTR5
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain C1QTNF8 LMF1 CACNA1H SSTR5-AS1 SSTR5 LMF1-AS1 LOC107984876 SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSAB1 PRSS29P C1QTNF8 TPSD1 TPSG1 TPSB2 CACNA1H SSTR5-AS1 SSTR5
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 CACNA1H SSTR5-AS1 SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss TPSAB1 CLCN7 GNPTG UNKL C16orf91 LMF1 TPSG1 TSR3 TPSB2 CACNA1H SSTR5 LMF1-AS1 CCDC154 SOX8 BAIAP3 PRSS29P C1QTNF8 UBE2I TPSD1 SSTR5-AS1 LOC105371045 LOC107984876
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSAB1 C1QTNF8 TPSG1 TPSB2 CACNA1H SSTR5-AS1 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSAB1 CLCN7 GNPTG UNKL C16orf91 TPSG1 TSR3 TPSB2 CACNA1H PTX4 TELO2 LOC105371047 CCDC154 IFT140 BAIAP3 PRSS29P TMEM204 UBE2I TPSD1 LOC105371045
dgv4841n54 Chr.16:1142213 - 1220162 on Build GRCh38 Loss CACNA1H
nsv457326 Chr.16:1148938 - 1220162 on Build GRCh38 Loss CACNA1H
nsv571102 Chr.16:1084818 - 1257675 on Build GRCh38 Loss TPSAB1 C1QTNF8 TPSD1 TPSG1 TPSB2 CACNA1H

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