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

Chr.16:1170009 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03927272_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 C1QTNF8 HS3ST6 KCTD5 PRR35 WASIR2 SLC9A3R2 HAGH MIR6859-4 SNRNP25 RHBDL1 NHLRC4 ABCA17P LOC729652 GFER NARFL SNORA78 CACNA1H MIR6511B1 UBE2I TSR3 CAPN15 CLCN7 LOC652276 MRPS34 MIR6767 MCRIP2 IGFALS POLR3K NTHL1 FBXL16 AXIN1 CCNF METTL26 ZNF598 UNKL SSTR5 FAM234A PKD1 SPSB3 MPG LOC105371049 MIR4516 AMDHD2 GNPTG MIR3176 MEIOB PTX4 PGP NME4 FAHD1 TMEM8A MIR1225 RPS2 RGS11 TBC1D24 LOC105371038 NOXO1 ATP6V0C MSLN TSC2 SYNGR3 NTN3 LMF1-AS1 SNHG19 TPSD1 ARHGDIG LOC107987233 TPSB2 WFIKKN1 EME2 SNORA64 CASKIN1 RHOT2 MIR3677 CHTF18 SNORA10 C16orf91 RPL3L NPRL3 MIR4717 LOC106660606 SSTR5-AS1 NDUFB10 LOC107984876 FAM173A MAPK8IP3 PRSS29P LINC00254 STUB1 MIR3177 LINC00235 CCDC78 TELO2 DECR2 TRAF7 TBL3 ABCA3 MRPL28 IFT140 RAB11FIP3 LOC105371045 LOC101929280 HBA2 HBA1 MIR940 HN1L RNPS1 HAGHL MIR6768 PDIA2 HBZ RNF151 TPSG1 PIGQ FLJ42627 MSRB1 LMF1 RAB40C LOC100287175 CRAMP1 BAIAP3 CEMP1 PDPK1 MIR3180-5 HBM ERVK13-1 PRR25 E4F1 SOX8 CCDC154 MIR5587 TMEM204 GNG13 PRSS27 DNASE1L2 DDX11L10 LOC105371047 LOC100134368 LOC105371046 MIR3178 BRICD5 MIR662 RAB26 NUBP2 HBQ1 LOC105371184 LUC7L WDR90 RPUSD1 ECI1 TPSAB1 METRN WDR24 MLST8 C16orf59 JMJD8 SNORD60 NME3 NPW SNHG9 RPL23AP5 RHBDF1
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss UBE2I TSR3 C1QTNF8 TPSG1 GNPTG LMF1 TPSAB1 BAIAP3 UNKL SSTR5 SSTR5-AS1 LMF1-AS1 TPSD1 PRSS29P TPSB2 CACNA1H SOX8
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSG1 TPSAB1 TPSD1 PRSS29P TPSB2 CACNA1H
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion C1QTNF8 TPSG1 SSTR5 SSTR5-AS1 CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain C1QTNF8 SSTR5 SSTR5-AS1 LMF1 LMF1-AS1 LOC107984876 CACNA1H SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain C1QTNF8 TPSG1 SSTR5 SSTR5-AS1 TPSAB1 TPSD1 PRSS29P TPSB2 CACNA1H
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 SSTR5 SSTR5-AS1 CACNA1H
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss UBE2I TSR3 C1QTNF8 TPSG1 CLCN7 CCDC154 GNPTG LMF1 TPSAB1 C16orf91 LOC105371045 BAIAP3 UNKL SSTR5 SSTR5-AS1 LMF1-AS1 TPSD1 LOC107984876 PRSS29P TPSB2 CACNA1H SOX8
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain C1QTNF8 TPSG1 SSTR5 SSTR5-AS1 TPSAB1 TPSB2 CACNA1H
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion UBE2I TSR3 TPSG1 TELO2 CLCN7 CCDC154 GNPTG PTX4 TMEM204 TPSAB1 IFT140 LOC105371047 C16orf91 LOC105371045 BAIAP3 UNKL TPSD1 PRSS29P TPSB2 CACNA1H
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 TPSG1 TPSAB1 TPSD1 TPSB2 CACNA1H

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