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

Chr.16:1159004 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03930953_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
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1-AS1 SOX8 C1QTNF8 CACNA1H LMF1 SSTR5-AS1 SSTR5 LOC107984876
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication MIR4516 TPSG1 ZNF598 TMEM204 CACNA1H MAPK8IP3 TPSAB1 LINC00235 MSLN TPSB2 CHTF18 PTX4 GNG13 BAIAP3 HBZ HBA2 HAGH ARHGDIG WFIKKN1 LOC105371046 LOC107984876 MIR6859-4 LOC652276 C1QTNF8 NUBP2 HN1L POLR3K E4F1 HBQ1 PGP RPS2 MIR6511B1 SSTR5 GFER CASKIN1 LMF1-AS1 WDR24 LOC105371047 CCDC78 PRR25 LINC00254 ABCA3 FAHD1 FAM173A METRN TELO2 CRAMP1 EME2 ATP6V0C RGS11 PKD1 SSTR5-AS1 C16orf59 MSRB1 RNF151 IGFALS LOC106660606 MRPL28 SNRNP25 GNPTG NME3 ECI1 WASIR2 LOC729652 PDIA2 MIR940 TMEM8A RAB11FIP3 WDR90 LMF1 FLJ42627 SNORA10 CAPN15 HBA1 LOC107987233 MIR3178 JMJD8 AMDHD2 DECR2 ERVK13-1 LOC105371045 MLST8 CCDC154 LOC105371184 MIR6767 FAM234A NOXO1 RPL3L RNPS1 LOC105371038 SNHG9 RHBDF1 NARFL RHOT2 SNORA64 UBE2I SLC9A3R2 SNHG19 SNORD60 STUB1 LOC101929280 MIR4717 DDX11L10 LOC105371049 TBC1D24 IFT140 MIR3180-5 MIR3677 UNKL RPL23AP5 NHLRC4 RHBDL1 CEMP1 FBXL16 SYNGR3 MCRIP2 DNASE1L2 LOC100287175 SOX8 HBM CLCN7 METTL26 C16orf91 TSC2 PRSS29P MIR5587 CCNF PRR35 RPUSD1 PDPK1 BRICD5 NDUFB10 NME4 TRAF7 HS3ST6 MPG RAB40C MIR662 SNORA78 MIR6768 HAGHL NTHL1 NTN3 MRPS34 SPSB3 LUC7L MIR3177 RAB26 PRSS27 TBL3 NPRL3 PIGQ ABCA17P MIR3176 MIR1225 TPSD1 TSR3 KCTD5 NPW AXIN1 LOC100134368 MEIOB
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P TPSG1 C1QTNF8 CACNA1H TPSAB1 SSTR5-AS1 TPSD1 SSTR5 TPSB2
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 CACNA1H SSTR5-AS1 SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LMF1-AS1 SOX8 TPSG1 CLCN7 C1QTNF8 C16orf91 CACNA1H TPSAB1 UBE2I LOC105371045 GNPTG TPSB2 CCDC154 PRSS29P BAIAP3 UNKL LMF1 SSTR5-AS1 TPSD1 TSR3 SSTR5 LOC107984876
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSG1 C1QTNF8 CACNA1H TPSAB1 SSTR5-AS1 SSTR5 TPSB2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss LMF1-AS1 SOX8 TPSG1 C1QTNF8 CACNA1H TPSAB1 UBE2I GNPTG TPSB2 PRSS29P BAIAP3 UNKL LMF1 SSTR5-AS1 TPSD1 TSR3 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSG1 CLCN7 C16orf91 TMEM204 CACNA1H LOC105371047 TPSAB1 UBE2I LOC105371045 GNPTG TPSB2 CCDC154 PRSS29P TELO2 IFT140 PTX4 BAIAP3 UNKL TPSD1 TSR3
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion TPSG1 C1QTNF8 CACNA1H SSTR5-AS1 SSTR5
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 C1QTNF8 CACNA1H TPSAB1 TPSD1 TPSB2

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