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

Chr.16:1174738 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03930422_cn
Size
Availability Made To Order
Catalog # 4400291
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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 MIR6511B1 MRPS34 PDPK1 HAGHL MIR3176 PRR35 SNORA64 PIGQ NPW MIR3180-5 CASKIN1 BRICD5 DECR2 PKD1 ARHGDIG LOC105371045 MIR6768 UNKL MAPK8IP3 RNPS1 HBA2 UBE2I ECI1 DDX11L10 MIR4717 LOC729652 PRR25 NHLRC4 LOC105371047 KCTD5 TMEM8A LOC105371184 C1QTNF8 MEIOB MIR1225 RHOT2 MRPL28 MIR6859-4 LMF1 TPSD1 LUC7L TMEM204 LINC00235 LOC105371038 ATP6V0C MIR4516 MLST8 HBQ1 NTHL1 RPL23AP5 RPL3L TPSB2 SNHG19 PRSS29P EME2 RPUSD1 TSR3 MSRB1 FAHD1 CHTF18 LOC100287175 JMJD8 LOC105371049 SSTR5-AS1 LOC107984876 RHBDF1 WFIKKN1 SNORD60 TPSG1 PDIA2 CRAMP1 SOX8 MSLN RGS11 PGP SNRNP25 E4F1 SNORA10 IGFALS NARFL LOC652276 DNASE1L2 ZNF598 TPSAB1 SYNGR3 C16orf91 CLCN7 IFT140 SNHG9 MIR6767 MIR3178 POLR3K RAB11FIP3 RPS2 CAPN15 MIR5587 HBZ BAIAP3 SLC9A3R2 ABCA3 HN1L C16orf59 FLJ42627 SSTR5 HS3ST6 TBL3 TELO2 LOC105371046 PRSS27 MIR3677 RAB40C RAB26 METRN RHBDL1 CCNF MIR940 NME3 HAGH GNG13 NUBP2 MPG HBM CEMP1 MIR662 WDR24 FBXL16 TRAF7 WASIR2 FAM234A METTL26 AXIN1 LMF1-AS1 HBA1 MIR3177 SPSB3 GNPTG NDUFB10 LINC00254 NPRL3 LOC106660606 LOC107987233 CACNA1H STUB1 CCDC154 AMDHD2 CCDC78 LOC101929280 SNORA78 ABCA17P NME4 PTX4 GFER ERVK13-1 LOC100134368 RNF151 NOXO1 FAM173A TBC1D24 TSC2 NTN3 WDR90 MCRIP2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss SSTR5-AS1 CACNA1H SSTR5 TPSG1 C1QTNF8 SOX8 TPSB2 LMF1-AS1 PRSS29P GNPTG UNKL BAIAP3 TSR3 LMF1 TPSD1 UBE2I TPSAB1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSB2 CACNA1H PRSS29P TPSG1 TPSD1 TPSAB1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 CACNA1H SSTR5 TPSG1 C1QTNF8
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain SSTR5-AS1 CACNA1H LMF1-AS1 LOC107984876 SSTR5 LMF1 C1QTNF8 SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain SSTR5-AS1 TPSB2 CACNA1H PRSS29P SSTR5 TPSG1 TPSD1 C1QTNF8 TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 CACNA1H SSTR5 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss SSTR5-AS1 C16orf91 CACNA1H LOC107984876 CLCN7 SSTR5 CCDC154 TPSG1 C1QTNF8 SOX8 TPSB2 LMF1-AS1 PRSS29P LOC105371045 GNPTG UNKL BAIAP3 TSR3 LMF1 TPSD1 UBE2I TPSAB1
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 TPSB2 CACNA1H SSTR5 TPSG1 C1QTNF8 TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion C16orf91 CACNA1H CLCN7 IFT140 LOC105371047 CCDC154 TPSG1 TELO2 TPSB2 PRSS29P PTX4 LOC105371045 GNPTG UNKL BAIAP3 TSR3 TPSD1 UBE2I TPSAB1 TMEM204
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 CACNA1H TPSG1 TPSD1 C1QTNF8 TPSAB1

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