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

Chr.16:1158539 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03933769_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain C1QTNF8 LMF1 SSTR5-AS1 LMF1-AS1 CACNA1H SSTR5 SOX8 LOC107984876
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication GFER C16orf91 RPL23AP5 TBL3 LOC107984876 HS3ST6 MEIOB E4F1 MIR1225 MSRB1 LOC100134368 DDX11L10 MIR3180-5 MSLN MIR3177 TBC1D24 BAIAP3 ABCA3 CEMP1 PRSS29P ECI1 METRN LOC100287175 MRPL28 MIR3677 RAB26 SNHG19 RPUSD1 MIR6859-4 MIR6511B1 WASIR2 NPRL3 LOC105371049 CCDC78 GNPTG SYNGR3 MIR4717 SNHG9 PGP NUBP2 FAHD1 ATP6V0C METTL26 AMDHD2 TPSD1 RHBDF1 HBA2 NHLRC4 MIR6768 TPSAB1 TSR3 CRAMP1 SNORA64 RPL3L FAM173A SPSB3 AXIN1 MIR3176 LOC105371046 JMJD8 SSTR5 RAB11FIP3 HBA1 LOC106660606 RNF151 CLCN7 MIR6767 KCTD5 POLR3K HAGH LOC105371038 CHTF18 LUC7L ERVK13-1 LOC729652 CACNA1H CAPN15 PDIA2 MIR4516 EME2 SNORD60 MLST8 WDR90 SNORA10 SLC9A3R2 MIR3178 NME4 LINC00235 MCRIP2 HBZ DNASE1L2 SOX8 LOC105371045 LOC652276 ZNF598 FAM234A NTHL1 SNORA78 HN1L FLJ42627 C1QTNF8 LMF1-AS1 CASKIN1 PRSS27 UNKL STUB1 HAGHL TSC2 ABCA17P TMEM8A MAPK8IP3 WDR24 RHOT2 MPG RHBDL1 TRAF7 TELO2 CCNF CCDC154 NARFL PTX4 GNG13 TPSB2 PRR35 IGFALS C16orf59 LOC101929280 SNRNP25 HBQ1 NTN3 LMF1 MIR5587 TPSG1 PDPK1 IFT140 PKD1 NPW RNPS1 RPS2 TMEM204 MIR940 NOXO1 PIGQ MIR662 DECR2 NDUFB10 LOC107987233 PRR25 RGS11 FBXL16 LOC105371184 LINC00254 WFIKKN1 LOC105371047 SSTR5-AS1 RAB40C ARHGDIG UBE2I HBM BRICD5 NME3 MRPS34
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSD1 C1QTNF8 TPSAB1 SSTR5-AS1 TPSB2 TPSG1 CACNA1H SSTR5 PRSS29P
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 SSTR5-AS1 CACNA1H SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss TPSD1 CLCN7 UNKL TPSAB1 TPSB2 C16orf91 CACNA1H SOX8 LOC105371045 TSR3 LOC107984876 GNPTG C1QTNF8 LMF1 CCDC154 SSTR5-AS1 LMF1-AS1 TPSG1 SSTR5 BAIAP3 UBE2I PRSS29P
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain C1QTNF8 TPSAB1 SSTR5-AS1 TPSB2 TPSG1 CACNA1H SSTR5
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TPSD1 UNKL TPSAB1 TPSB2 CACNA1H SOX8 TSR3 GNPTG C1QTNF8 LMF1 SSTR5-AS1 LMF1-AS1 TPSG1 SSTR5 BAIAP3 UBE2I PRSS29P
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSD1 CLCN7 UNKL TMEM204 TPSAB1 TPSB2 C16orf91 CACNA1H LOC105371045 TSR3 TELO2 GNPTG CCDC154 LOC105371047 PTX4 TPSG1 IFT140 BAIAP3 UBE2I PRSS29P
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion C1QTNF8 SSTR5-AS1 TPSG1 CACNA1H SSTR5
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 TPSD1 C1QTNF8 TPSAB1 TPSB2 TPSG1 CACNA1H

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