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

Chr.16:1161627 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03921065_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 HAGH ERVK13-1 FBXL16 LOC106660606 CCDC154 MIR6768 RPL3L SNORA10 NPRL3 CEMP1 PRR25 TBL3 MIR3180-5 GFER MIR3677 MEIOB SNHG19 GNG13 LOC105371045 NTHL1 MIR940 DNASE1L2 TMEM204 RHOT2 NTN3 ZNF598 PDPK1 UNKL MIR662 NPW JMJD8 SNHG9 WDR90 HBQ1 CASKIN1 C16orf91 SSTR5 SLC9A3R2 CCDC78 RGS11 LMF1-AS1 PRSS29P MIR4717 MIR3177 MRPS34 MLST8 MRPL28 LOC105371038 TPSD1 POLR3K C1QTNF8 MSLN KCTD5 TMEM8A NOXO1 LOC101929280 MIR5587 RNPS1 MIR4516 LOC652276 NME3 HBA2 ATP6V0C RPL23AP5 CLCN7 FAM173A PGP LOC729652 TSC2 HN1L HAGHL FLJ42627 HBA1 NARFL LMF1 DDX11L10 MCRIP2 CCNF RAB40C STUB1 ABCA3 MSRB1 RHBDF1 BAIAP3 FAM234A LOC100134368 SNRNP25 NME4 TELO2 MIR3176 LINC00235 SPSB3 MIR6767 WFIKKN1 WDR24 PDIA2 BRICD5 RAB26 C16orf59 PRSS27 LINC00254 TBC1D24 AXIN1 NDUFB10 TPSAB1 RPS2 MIR6511B1 SNORA78 LOC100287175 METTL26 SSTR5-AS1 IFT140 NHLRC4 SYNGR3 LOC107987233 ECI1 PIGQ LOC107984876 LOC105371049 SNORA64 TPSG1 E4F1 FAHD1 SOX8 NUBP2 LOC105371047 PTX4 PRR35 ABCA17P IGFALS RHBDL1 LOC105371046 TSR3 RNF151 CRAMP1 MPG EME2 HS3ST6 CACNA1H GNPTG METRN LUC7L MIR6859-4 MIR3178 RPUSD1 PKD1 MIR1225 ARHGDIG CHTF18 WASIR2 TRAF7 TPSB2 SNORD60 DECR2 RAB11FIP3 CAPN15 HBZ MAPK8IP3 AMDHD2 HBM UBE2I LOC105371184
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss PRSS29P TPSG1 UNKL LMF1 TPSB2 TPSAB1 SOX8 TPSD1 C1QTNF8 SSTR5-AS1 TSR3 BAIAP3 SSTR5 CACNA1H GNPTG UBE2I LMF1-AS1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 TPSG1 SSTR5 CACNA1H C1QTNF8
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LOC107984876 SSTR5-AS1 SSTR5 LMF1 SOX8 CACNA1H C1QTNF8 LMF1-AS1
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P SSTR5-AS1 TPSG1 SSTR5 TPSB2 TPSAB1 CACNA1H TPSD1 C1QTNF8
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 SSTR5 CACNA1H C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss PRSS29P LOC107984876 CCDC154 TPSG1 UNKL LMF1 TPSB2 TPSAB1 SOX8 TPSD1 C1QTNF8 CLCN7 SSTR5-AS1 TSR3 BAIAP3 LOC105371045 C16orf91 SSTR5 CACNA1H GNPTG UBE2I LMF1-AS1
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 TPSG1 SSTR5 TPSB2 TPSAB1 CACNA1H C1QTNF8
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TMEM204 PRSS29P CCDC154 TPSG1 UNKL TPSB2 TPSAB1 LOC105371047 PTX4 TPSD1 CLCN7 TSR3 BAIAP3 LOC105371045 C16orf91 IFT140 TELO2 CACNA1H GNPTG UBE2I
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 TPSG1 TPSB2 TPSAB1 CACNA1H TPSD1 C1QTNF8

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