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

Chr.16:1175190 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03944835_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 NPW C1QTNF8 NOXO1 BRICD5 SNORA78 DECR2 TBL3 STUB1 NUBP2 PGP POLR3K MSLN NARFL ATP6V0C RPL3L SNORA10 TSC2 TBC1D24 KCTD5 UBE2I RAB26 NME3 TSR3 LOC107987233 RHOT2 ECI1 MAPK8IP3 IGFALS MIR3677 AXIN1 CAPN15 LINC00235 MRPS34 PRR35 RPS2 CCDC78 ERVK13-1 SOX8 PDPK1 CLCN7 SNORD60 CASKIN1 HBQ1 BAIAP3 NME4 C16orf91 WDR24 RNPS1 SYNGR3 DNASE1L2 MLST8 MEIOB HBZ TPSAB1 E4F1 LOC105371038 GNG13 TRAF7 ZNF598 PTX4 RPUSD1 FAM234A LOC729652 LOC100287175 LOC107984876 CRAMP1 TPSG1 LOC106660606 MIR6511B1 TELO2 WASIR2 GFER RHBDF1 RPL23AP5 TMEM204 LINC00254 MIR3176 EME2 SLC9A3R2 PIGQ NDUFB10 LOC100134368 HAGHL HN1L MIR4516 ABCA17P RAB11FIP3 MIR4717 NTHL1 LOC105371045 DDX11L10 FAHD1 SNHG9 TPSB2 MPG MIR6859-4 MRPL28 MIR5587 SSTR5 FLJ42627 PRSS27 JMJD8 SNORA64 RAB40C METRN IFT140 ARHGDIG PDIA2 LOC105371049 TPSD1 LMF1 HBA2 MSRB1 LOC101929280 PRR25 HBA1 WDR90 LOC105371046 MIR3177 RNF151 HAGH SNRNP25 NTN3 ABCA3 NPRL3 PKD1 NHLRC4 MIR6767 UNKL CCDC154 LOC105371047 CCNF SSTR5-AS1 WFIKKN1 MCRIP2 FAM173A LMF1-AS1 MIR3180-5 GNPTG AMDHD2 MIR1225 RHBDL1 HS3ST6 SPSB3 MIR6768 CHTF18 MIR940 HBM SNHG19 FBXL16 METTL26 LOC105371184 PRSS29P LUC7L CACNA1H C16orf59 MIR662 TMEM8A RGS11 LOC652276 CEMP1 MIR3178
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss C1QTNF8 TPSAB1 SOX8 UNKL TPSB2 TPSD1 LMF1 SSTR5-AS1 UBE2I BAIAP3 PRSS29P CACNA1H TSR3 LMF1-AS1 SSTR5 GNPTG TPSG1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSB2 TPSD1 TPSAB1 PRSS29P CACNA1H TPSG1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion C1QTNF8 SSTR5-AS1 CACNA1H SSTR5 TPSG1
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain C1QTNF8 LMF1 SSTR5-AS1 LOC107984876 CACNA1H LMF1-AS1 SOX8 SSTR5
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSB2 TPSD1 C1QTNF8 SSTR5-AS1 TPSAB1 PRSS29P CACNA1H SSTR5 TPSG1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 SSTR5-AS1 CACNA1H SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LOC105371045 C1QTNF8 TPSAB1 SOX8 UNKL CCDC154 CLCN7 TPSB2 TPSD1 LMF1 SSTR5-AS1 UBE2I BAIAP3 C16orf91 LOC107984876 PRSS29P CACNA1H TSR3 LMF1-AS1 SSTR5 GNPTG TPSG1
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSB2 C1QTNF8 SSTR5-AS1 TPSAB1 CACNA1H SSTR5 TPSG1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TELO2 LOC105371045 TPSAB1 TMEM204 IFT140 UNKL CCDC154 CLCN7 PTX4 LOC105371047 TPSB2 TPSD1 UBE2I BAIAP3 C16orf91 PRSS29P CACNA1H TSR3 GNPTG TPSG1
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 TPSD1 C1QTNF8 TPSAB1 CACNA1H TPSG1

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