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

Chr.16:1163052 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03935330_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 DDX11L10 MEIOB SYNGR3 BAIAP3 RPS2 MIR4717 NDUFB10 MSLN PGP MIR6767 WDR24 SSTR5-AS1 ECI1 METTL26 RNPS1 NARFL LOC100287175 HBA1 HAGH MIR6768 RAB26 DECR2 METRN FAHD1 GNG13 PIGQ HBM MIR6511B1 SNORA10 RGS11 NOXO1 LOC652276 HS3ST6 RHBDF1 RPUSD1 TMEM204 GFER LOC107987233 LOC101929280 MIR3178 WASIR2 LUC7L LOC105371047 GNPTG AMDHD2 CCNF LOC106660606 ZNF598 TBC1D24 SNORA78 NPW FBXL16 LOC729652 SNORD60 PDPK1 MIR1225 MIR3180-5 E4F1 MIR3176 LOC105371049 TRAF7 TPSD1 WDR90 CHTF18 NUBP2 ARHGDIG TMEM8A SNHG9 SNHG19 RPL23AP5 PRSS27 FLJ42627 C16orf91 MSRB1 CASKIN1 PRR35 WFIKKN1 SPSB3 LINC00235 PDIA2 TPSG1 DNASE1L2 LINC00254 MIR940 TSR3 MCRIP2 HBZ ERVK13-1 SNORA64 MRPL28 C16orf59 MIR4516 HBA2 LMF1-AS1 TELO2 AXIN1 LOC105371184 IGFALS HN1L FAM173A CACNA1H PKD1 TBL3 MPG LOC105371038 TPSAB1 NHLRC4 HAGHL MIR6859-4 SOX8 ATP6V0C UBE2I RNF151 SSTR5 RHBDL1 FAM234A TSC2 LOC100134368 ABCA3 LOC107984876 NPRL3 UNKL RHOT2 NTHL1 PRR25 LOC105371045 CEMP1 C1QTNF8 MIR3677 CCDC154 EME2 NME3 LMF1 MIR5587 IFT140 MAPK8IP3 MIR662 SNRNP25 CLCN7 SLC9A3R2 CAPN15 ABCA17P BRICD5 KCTD5 CRAMP1 RPL3L PRSS29P NTN3 MIR3177 STUB1 LOC105371046 POLR3K MRPS34 CCDC78 RAB40C HBQ1 PTX4 JMJD8 NME4 MLST8 TPSB2 RAB11FIP3
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss C1QTNF8 TSR3 GNPTG BAIAP3 TPSAB1 SOX8 PRSS29P UBE2I SSTR5-AS1 LMF1-AS1 SSTR5 LMF1 CACNA1H UNKL TPSD1 TPSB2 TPSG1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSAB1 CACNA1H PRSS29P TPSD1 TPSB2 TPSG1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion C1QTNF8 CACNA1H SSTR5-AS1 TPSG1 SSTR5
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain C1QTNF8 LMF1 LOC107984876 CACNA1H SOX8 SSTR5-AS1 LMF1-AS1 SSTR5
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain C1QTNF8 TPSAB1 CACNA1H PRSS29P TPSD1 TPSB2 SSTR5-AS1 TPSG1 SSTR5
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 CACNA1H SSTR5-AS1 SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss C1QTNF8 TSR3 GNPTG BAIAP3 TPSAB1 CCDC154 SOX8 PRSS29P C16orf91 UBE2I SSTR5-AS1 LMF1-AS1 SSTR5 LMF1 LOC107984876 CLCN7 CACNA1H UNKL TPSD1 TPSB2 TPSG1 LOC105371045
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain C1QTNF8 TPSAB1 CACNA1H TPSB2 SSTR5-AS1 TPSG1 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion LOC105371047 TSR3 GNPTG BAIAP3 TPSAB1 CCDC154 PRSS29P C16orf91 UBE2I TELO2 TMEM204 IFT140 CLCN7 CACNA1H UNKL PTX4 TPSD1 TPSB2 TPSG1 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 C1QTNF8 TPSAB1 CACNA1H TPSD1 TPSB2 TPSG1

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