Product Details

Assay Reference Genome Location: Chr.12:2001538 on build GRCh38
Cytoband: 12p13.33
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 775
Gene Symbol: CACNA1C
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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
CACNA1C	XM_006719017.2			XP_006719080.1
	XM_011521020.2			XP_011519322.1
	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

Entrez Gene ID: 196513
Gene Symbol: DCP1B
Gene Name: decapping mRNA 1B
Gene Aliases: DCP1
Location: Chr.12:1941591-2004535 on build GRCh38
Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Location	Protein ID
DCP1B	NM_001319292.1			NP_001306221.1
	NM_152640.4			NP_689853.3
	NR_135060.1
	XM_011520927.2			XP_011519229.1
	AK056200.1			BAB71118.1
	AK299203.1
	AK301109.1
	AK310475.1
	AY146652.1			AAN62764.1
	BC043437.2			AAH43437.1
	BM544996.1
	DC425587.1

Target Copy Number Variation Details

DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv521838	Chr12:1951414 - 2190514 on Build GRCh38	Gain	DCP1B CACNA1C CACNA1C-IT2
nsv1042378	Chr12:1968731 - 2020607 on Build GRCh38	Gain	DCP1B CACNA1C
nsv1040370	Chr12:1912229 - 2561851 on Build GRCh38	Gain	CACNA1C-IT3 CACNA1C-AS4 DCP1B CACNA2D4 CACNA1C LINC00940 CACNA1C-IT2
nsv525455	Chr12:1956204 - 2025860 on Build GRCh38	Loss	DCP1B CACNA1C

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