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

Chr.16:1153960 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03065321_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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1H NM_001005407.1 2 471 NP_001005407.1
NM_021098.2 2 471 NP_066921.2
XM_005255652.4 2 317 XP_005255709.1
XM_006720963.3 2 317 XP_006721026.1
XM_006720964.3 2 317 XP_006721027.1
XM_006720965.3 2 317 XP_006721028.1
XM_006720967.3 2 318 XP_006721030.1
XM_006720968.3 2 318 XP_006721031.1
XM_011522727.2 2 324 XP_011521029.1
XM_017023819.1 2 317 XP_016879308.1
XM_017023820.1 2 317 XP_016879309.1
XM_017023821.1 2 317 XP_016879310.1
AF051946.3 2 302 AAC67239.3
AF073931.1 2 471 AAD17668.1
AJ420779.1 1 223 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 ECI1 MIR1225 SNORD60 LOC105371046 FLJ42627 RPS2 RPUSD1 RAB40C UBE2I BRICD5 AMDHD2 TPSG1 NTHL1 MIR4516 MPG SYNGR3 JMJD8 POLR3K RAB11FIP3 HBQ1 IGFALS GFER RHOT2 MIR6767 WASIR2 TELO2 PGP MRPL28 CASKIN1 DECR2 FAHD1 SOX8 MSLN HS3ST6 LOC107987233 SNORA78 PTX4 SSTR5-AS1 E4F1 LMF1 HBA2 MIR3178 AXIN1 NPW MIR3677 C16orf59 ABCA3 CCDC78 BAIAP3 CCNF RAB26 MIR6859-4 LOC105371045 MSRB1 MIR3180-5 ARHGDIG NME4 CRAMP1 TMEM204 NUBP2 LOC106660606 NDUFB10 LOC100134368 UNKL PRSS27 LOC729652 PDIA2 RHBDL1 TBC1D24 TSR3 LOC105371049 SPSB3 TPSB2 C1QTNF8 WFIKKN1 DDX11L10 WDR24 HBZ RNPS1 LUC7L PRR25 MIR940 MAPK8IP3 HAGHL SNHG19 PRR35 NOXO1 RGS11 HAGH ATP6V0C RPL3L GNPTG WDR90 CAPN15 SSTR5 LOC652276 LOC105371184 LMF1-AS1 NTN3 LOC107984876 MCRIP2 FBXL16 NPRL3 LINC00254 SLC9A3R2 MIR3176 EME2 CCDC154 STUB1 CACNA1H TMEM8A DNASE1L2 ERVK13-1 RNF151 LOC105371038 RPL23AP5 FAM234A HN1L SNHG9 MIR6511B1 MLST8 HBM ZNF598 TBL3 SNRNP25 FAM173A TRAF7 TSC2 SNORA10 MRPS34 HBA1 METTL26 SNORA64 PRSS29P IFT140 PKD1 MIR4717 NHLRC4 CLCN7 LOC105371047 LOC101929280 RHBDF1 METRN LINC00235 TPSD1 PIGQ NARFL MIR662 TPSAB1 CEMP1 PDPK1 MIR5587 C16orf91 ABCA17P CHTF18 MEIOB NME3 KCTD5 LOC100287175 GNG13 MIR3177 MIR6768
nsv1071247 Chr.16:1152199 - 1154800 on Build GRCh38 Deletion CACNA1H
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TPSD1 UNKL TPSAB1 SOX8 TSR3 BAIAP3 GNPTG PRSS29P UBE2I SSTR5-AS1 TPSB2 C1QTNF8 LMF1 TPSG1 SSTR5 CACNA1H LMF1-AS1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 C1QTNF8 TPSG1 SSTR5 CACNA1H
esv27714 Chr.16:1152594 - 1154126 on Build GRCh38 Loss CACNA1H
nsv1136205 Chr.16:1152700 - 1154100 on Build GRCh38 Deletion CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LOC107984876 SSTR5-AS1 C1QTNF8 LMF1 SSTR5 CACNA1H SOX8 LMF1-AS1
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P TPSD1 SSTR5-AS1 TPSB2 C1QTNF8 TPSG1 SSTR5 CACNA1H TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 C1QTNF8 SSTR5 CACNA1H
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LOC107984876 TPSD1 UNKL TPSAB1 SOX8 TSR3 BAIAP3 GNPTG CCDC154 PRSS29P UBE2I SSTR5-AS1 TPSB2 C1QTNF8 LMF1 C16orf91 TPSG1 SSTR5 CACNA1H CLCN7 LOC105371045 LMF1-AS1
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 TPSB2 C1QTNF8 TPSG1 SSTR5 CACNA1H TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSD1 TELO2 TMEM204 UNKL TPSAB1 TSR3 BAIAP3 GNPTG CCDC154 PRSS29P UBE2I PTX4 TPSB2 IFT140 C16orf91 TPSG1 CACNA1H CLCN7 LOC105371045 LOC105371047
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 TPSB2 C1QTNF8 TPSG1 CACNA1H TPSAB1

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