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

Chr.16:1165580 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03923240_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
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication EME2 HAGHL MRPL28 E4F1 NOXO1 PDPK1 LMF1 LOC107987233 HN1L RHBDL1 HBA2 LOC105371047 LOC100134368 HS3ST6 SLC9A3R2 CCDC154 TELO2 SNHG9 FLJ42627 IGFALS MIR3677 RHOT2 RNPS1 PKD1 MIR940 NHLRC4 GNG13 LOC101929280 RPL23AP5 SSTR5 MIR6511B1 SNORA10 LOC106660606 MRPS34 LOC105371045 METTL26 WDR24 MIR6859-4 NDUFB10 MIR6768 DDX11L10 FAM234A MIR3177 LOC105371038 AXIN1 MCRIP2 LUC7L RGS11 CASKIN1 NTHL1 HAGH POLR3K CACNA1H PRSS29P UNKL LOC107984876 RPUSD1 MIR3180-5 NPRL3 RPS2 BRICD5 MIR4717 MEIOB HBM SNHG19 KCTD5 FBXL16 SPSB3 PRSS27 TPSAB1 RPL3L LMF1-AS1 C16orf59 DNASE1L2 SSTR5-AS1 HBA1 MSRB1 LOC105371049 PTX4 LOC729652 TMEM8A ZNF598 HBZ ABCA17P RAB26 SNORA78 CLCN7 TBC1D24 RAB40C SOX8 WASIR2 PRR35 LOC105371046 WDR90 BAIAP3 SYNGR3 MIR4516 SNRNP25 TPSD1 UBE2I MIR3176 TPSB2 MAPK8IP3 ERVK13-1 PDIA2 NUBP2 MIR662 PIGQ AMDHD2 ARHGDIG LOC105371184 CEMP1 RNF151 RHBDF1 MIR6767 MLST8 LINC00254 MPG C16orf91 NTN3 GFER TSC2 MIR1225 ECI1 ABCA3 ATP6V0C STUB1 MIR3178 TMEM204 PGP LINC00235 SNORD60 IFT140 TBL3 CCDC78 HBQ1 RAB11FIP3 MIR5587 DECR2 PRR25 FAHD1 CCNF FAM173A NME3 LOC100287175 METRN TPSG1 WFIKKN1 LOC652276 CRAMP1 CHTF18 CAPN15 NPW GNPTG MSLN JMJD8 TRAF7 C1QTNF8 NME4 TSR3 SNORA64 NARFL
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss UBE2I TPSB2 TPSG1 LMF1 SOX8 TPSAB1 CACNA1H LMF1-AS1 PRSS29P UNKL BAIAP3 SSTR5 SSTR5-AS1 GNPTG C1QTNF8 TSR3 TPSD1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain PRSS29P TPSB2 TPSG1 TPSAB1 CACNA1H TPSD1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5 SSTR5-AS1 TPSG1 C1QTNF8 CACNA1H
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1-AS1 LOC107984876 SSTR5 SSTR5-AS1 LMF1 SOX8 C1QTNF8 CACNA1H
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P TPSB2 SSTR5 SSTR5-AS1 TPSG1 C1QTNF8 TPSAB1 CACNA1H TPSD1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5 SSTR5-AS1 C1QTNF8 CACNA1H
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss UBE2I TPSB2 CLCN7 TPSG1 LMF1 SOX8 TPSAB1 CACNA1H LMF1-AS1 PRSS29P UNKL LOC107984876 BAIAP3 SSTR5 SSTR5-AS1 GNPTG LOC105371045 C1QTNF8 TSR3 CCDC154 C16orf91 TPSD1
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSB2 SSTR5 SSTR5-AS1 TPSG1 C1QTNF8 TPSAB1 CACNA1H
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion UBE2I TPSB2 CLCN7 TMEM204 TPSG1 TPSAB1 CACNA1H IFT140 PRSS29P UNKL BAIAP3 LOC105371047 GNPTG LOC105371045 PTX4 TSR3 CCDC154 C16orf91 TELO2 TPSD1
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 TPSB2 TPSG1 C1QTNF8 TPSAB1 CACNA1H TPSD1

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