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See other CACNA1C CNV Assays ›
Gene Symbol
CACNA1C
Assay Reference Genome
Location

Chr.12:2277864 on build GRCh38
Cytoband
12p13.33
Assay ID Hs06348623_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 775

Gene Name:

 calcium voltage-gated channel subunit alpha1 C

Gene Aliases:

 CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS

Location:

 Chr.12:1969677-2697949 on Build GRCh38

Assay Gene Location:

 Within Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1C NM_000719.6 NP_000710.5
NM_001129827.1 NP_001123299.1
NM_001129829.1 NP_001123301.1
NM_001129830.2 NP_001123302.2
NM_001129831.1 NP_001123303.1
NM_001129832.1 NP_001123304.1
NM_001129833.1 NP_001123305.1
NM_001129834.1 NP_001123306.1
NM_001129835.1 NP_001123307.1
NM_001129836.1 NP_001123308.1
NM_001129837.1 NP_001123309.1
NM_001129838.1 NP_001123310.1
NM_001129839.1 NP_001123311.1
NM_001129840.1 NP_001123312.1
NM_001129841.1 NP_001123313.1
NM_001129842.1 NP_001123314.1
NM_001129843.1 NP_001123315.1
NM_001129844.1 NP_001123316.1
NM_001129846.1 NP_001123318.1
NM_001167623.1 NP_001161095.1
NM_001167624.2 NP_001161096.2
NM_001167625.1 NP_001161097.1
NM_199460.3 NP_955630.3
XM_006719017.2 XP_006719080.1
XM_011521020.2 XP_011519322.1
XM_011521023.2 XP_011519325.1
XM_017019926.1 XP_016875415.1
XM_017019927.1 XP_016875416.1
XM_017019928.1 XP_016875417.1
XM_017019929.1 XP_016875418.1
XM_017019930.1 XP_016875419.1
XM_017019931.1 XP_016875420.1
XM_017019932.1 XP_016875421.1
XM_017019933.1 XP_016875422.1
XM_017019934.1 XP_016875423.1
XM_017019935.1 XP_016875424.1
XM_017019936.1 XP_016875425.1
XM_017019937.1 XP_016875426.1
XM_017019938.1 XP_016875427.1
XM_017019939.1 XP_016875428.1
XM_017019940.1 XP_016875429.1
XM_017019941.1 XP_016875430.1
XM_017019942.1 XP_016875431.1
XM_017019943.1 XP_016875432.1
XM_017019944.1 XP_016875433.1
XM_017019945.1 XP_016875434.1
XM_017019946.1 XP_016875435.1
XM_017019947.1 XP_016875436.1
XM_017019948.1 XP_016875437.1
XM_017019949.1 XP_016875438.1
XM_017019950.1 XP_016875439.1
XM_017019951.1 XP_016875440.1
XM_017019952.1 XP_016875441.1
XM_017019953.1 XP_016875442.1
XM_017019954.1 XP_016875443.1
XM_017019955.1 XP_016875444.1
AB209016.1 BAD92253.1
AF465484.1 AAM70049.1
AJ224873.1 CAA12174.1
AY830711.1 AAX37354.1
AY830712.1 AAX37355.1
AY830713.1 AAX37356.1
BC146846.1
L29529.1 AAA51899.1
L29534.1 AAA51900.1
L29536.1 AAA51901.1
Z34809.1 CAA84340.1
Z34810.1 CAA84341.1
Z34811.1 CAA84342.1
Z34812.1 CAA84343.1
Z34813.1 CAA84344.1
Z34814.1 CAA84345.1
Z34815.1 CAA84346.1
Z34816.1 CAA84347.1
Z34817.1 CAA84348.1
Z34818.1 CAA84349.1
Z34819.1 CAA84350.1
Z34820.1 CAA84351.1
Z34821.1 CAA84352.1
Z34822.1 CAA84353.1
Z74996.1 CAA99284.1

Target Gene Details

Entrez Gene ID:

 100874370

Gene Name:

 CACNA1C intronic transcript 3

Gene Aliases:

 -

Location:

 Chr.12:2269776-2288745 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1C-IT3 NR_046769.1
AA421533.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1040370 Chr.12:1912229 - 2561851 on Build GRCh38 Gain CACNA1C-AS4 CACNA1C-IT3 CACNA1C-IT2 CACNA1C DCP1B LINC00940 CACNA2D4
nsv509449 Chr.12:2226489 - 2278671 on Build GRCh38 Insertion CACNA1C-IT3 CACNA1C

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More Information


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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