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

Chr.16:1173163 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03940428_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 ECI1 NUBP2 NPRL3 FBXL16 STUB1 RPL3L MIR5587 RHOT2 C16orf59 MIR3180-5 TPSG1 RAB40C LOC106660606 LOC100287175 NME3 TSC2 SNHG19 RPL23AP5 SYNGR3 MIR3176 PDPK1 RPUSD1 JMJD8 C16orf91 PRSS29P CCDC78 MIR4516 TPSAB1 SSTR5 METRN WDR90 TPSB2 C1QTNF8 IFT140 ARHGDIG RNF151 TSR3 CLCN7 PRR35 SNORD60 HBZ MIR6768 ZNF598 FAM173A AXIN1 NHLRC4 LMF1-AS1 GFER CEMP1 LOC107987233 FLJ42627 ABCA3 NARFL TELO2 PRSS27 LMF1 IGFALS HBQ1 MLST8 MEIOB CCNF HAGHL TMEM8A SOX8 TPSD1 CAPN15 NDUFB10 MIR6859-4 E4F1 EME2 MIR6511B1 RPS2 MIR6767 MCRIP2 MPG LOC105371038 HS3ST6 LINC00235 HAGH LOC101929280 CCDC154 ERVK13-1 GNG13 LUC7L MRPS34 DNASE1L2 MIR662 LOC652276 KCTD5 BAIAP3 LOC105371047 NTN3 PIGQ LINC00254 HBA1 MIR1225 NOXO1 MSLN RNPS1 RAB11FIP3 MAPK8IP3 METTL26 TMEM204 DDX11L10 MIR3177 LOC107984876 LOC105371046 MIR940 HN1L CASKIN1 CACNA1H SNORA10 CRAMP1 UBE2I PDIA2 PGP PKD1 NPW LOC729652 SNORA64 TBL3 FAM234A ABCA17P LOC105371045 SNRNP25 SNHG9 NME4 SPSB3 RHBDL1 LOC105371049 TRAF7 MIR3677 FAHD1 ATP6V0C BRICD5 SLC9A3R2 WASIR2 SNORA78 PTX4 HBA2 MIR4717 RHBDF1 CHTF18 POLR3K PRR25 SSTR5-AS1 RGS11 UNKL HBM WDR24 TBC1D24 RAB26 MIR3178 MSRB1 WFIKKN1 LOC105371184 NTHL1 DECR2 LOC100134368 MRPL28 GNPTG AMDHD2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TPSD1 CACNA1H SSTR5-AS1 UBE2I UNKL BAIAP3 PRSS29P LMF1-AS1 TPSAB1 SSTR5 TPSB2 TPSG1 LMF1 C1QTNF8 SOX8 TSR3 GNPTG
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSD1 CACNA1H TPSAB1 TPSB2 TPSG1 PRSS29P
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H SSTR5 SSTR5-AS1 TPSG1 C1QTNF8
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1-AS1 CACNA1H SSTR5 SSTR5-AS1 LMF1 C1QTNF8 SOX8 LOC107984876
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSD1 CACNA1H TPSAB1 SSTR5 SSTR5-AS1 TPSB2 TPSG1 C1QTNF8 PRSS29P
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5 SSTR5-AS1 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss TPSD1 CLCN7 CACNA1H SSTR5-AS1 UBE2I UNKL BAIAP3 C16orf91 PRSS29P LMF1-AS1 TPSAB1 SSTR5 CCDC154 TPSB2 TPSG1 LOC105371045 LMF1 C1QTNF8 SOX8 LOC107984876 TSR3 GNPTG
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain CACNA1H TPSAB1 SSTR5 SSTR5-AS1 TPSB2 TPSG1 C1QTNF8
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSD1 CLCN7 CACNA1H UBE2I UNKL BAIAP3 LOC105371047 C16orf91 PRSS29P TPSAB1 CCDC154 TELO2 PTX4 TPSB2 TPSG1 LOC105371045 TMEM204 IFT140 TSR3 GNPTG
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 TPSD1 CACNA1H TPSAB1 TPSB2 TPSG1 C1QTNF8

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