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

Chr.16:1169074 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03940846_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 CACNA1H LOC105371046 E4F1 RAB26 RGS11 MIR940 SNORD60 GFER ZNF598 LOC100287175 RPS2 WDR90 FAM173A HAGHL ERVK13-1 LOC107984876 TPSB2 NME3 STUB1 LUC7L UBE2I TPSD1 ECI1 SSTR5-AS1 SNHG19 PRSS29P SNRNP25 LOC105371049 MIR3677 MAPK8IP3 MRPL28 TMEM204 NHLRC4 DDX11L10 HS3ST6 UNKL TELO2 HBZ RAB40C PDPK1 CCNF LOC105371184 NTN3 LINC00254 PIGQ NPW SLC9A3R2 MSRB1 CASKIN1 DNASE1L2 TSC2 MIR3178 AMDHD2 SSTR5 LOC652276 RPUSD1 MSLN LINC00235 KCTD5 BRICD5 SYNGR3 FAHD1 MIR6859-4 RPL23AP5 BAIAP3 HBA2 MIR6511B1 SNORA64 NPRL3 WDR24 HBQ1 MIR4516 IGFALS PKD1 RAB11FIP3 MIR1225 PDIA2 RPL3L CAPN15 WASIR2 CHTF18 CLCN7 CEMP1 MIR5587 POLR3K JMJD8 MIR3176 SOX8 MIR3180-5 C1QTNF8 NME4 TSR3 LOC100134368 METTL26 PTX4 TBL3 TBC1D24 ATP6V0C C16orf59 NARFL MIR3177 METRN MEIOB DECR2 EME2 RNPS1 LOC105371038 SPSB3 PRSS27 LOC101929280 LOC106660606 MPG ARHGDIG MIR662 IFT140 NTHL1 ABCA17P HBA1 FAM234A RHBDF1 TPSG1 FLJ42627 SNORA78 PRR35 LMF1-AS1 NUBP2 HAGH MIR6768 WFIKKN1 PGP GNG13 MIR6767 MCRIP2 AXIN1 CRAMP1 SNORA10 CCDC78 LMF1 PRR25 SNHG9 ABCA3 C16orf91 RHBDL1 HBM MLST8 FBXL16 TRAF7 TMEM8A LOC729652 RNF151 TPSAB1 MIR4717 NOXO1 HN1L NDUFB10 GNPTG LOC105371047 RHOT2 LOC107987233 MRPS34 CCDC154 LOC105371045
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss CACNA1H PRSS29P TSR3 TPSG1 BAIAP3 LMF1-AS1 TPSAB1 UNKL GNPTG SSTR5 LMF1 TPSB2 SOX8 UBE2I TPSD1 SSTR5-AS1 C1QTNF8
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain CACNA1H PRSS29P TPSG1 TPSB2 TPSD1 TPSAB1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H TPSG1 SSTR5 SSTR5-AS1 C1QTNF8
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain CACNA1H SSTR5 LOC107984876 LMF1 LMF1-AS1 SOX8 SSTR5-AS1 C1QTNF8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain CACNA1H PRSS29P TPSG1 SSTR5 TPSB2 TPSD1 SSTR5-AS1 C1QTNF8 TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5 SSTR5-AS1 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss C16orf91 CACNA1H PRSS29P TSR3 TPSG1 BAIAP3 LMF1-AS1 TPSAB1 CLCN7 UNKL GNPTG SSTR5 LOC107984876 LMF1 TPSB2 CCDC154 SOX8 LOC105371045 UBE2I TPSD1 SSTR5-AS1 C1QTNF8
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain CACNA1H TPSG1 SSTR5 TPSB2 SSTR5-AS1 C1QTNF8 TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion C16orf91 CACNA1H PRSS29P TSR3 TPSG1 PTX4 BAIAP3 TMEM204 TPSAB1 CLCN7 UNKL TELO2 GNPTG LOC105371047 TPSB2 CCDC154 LOC105371045 IFT140 UBE2I TPSD1
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 CACNA1H TPSG1 TPSB2 TPSD1 C1QTNF8 TPSAB1

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More Information


Additional Information:

For this assay, SNP(s) [rs77787021] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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