Name: [Hs02271806_cn] [CYP27B1]
Creator: Thermo Fisher Scientific
Keywords: [CYP27B1] Assay, [cytochrome P450 family 27 subfamily B member 1] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	1594
Gene Name:	cytochrome P450 family 27 subfamily B member 1
Gene Aliases:	CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR
Location:	Chr.12:57762334-57767193 on Build GRCh38
Assay Gene Location:	Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CYP27B1	NM_000785.3	4	812	NP_000776.1
	AB005038.1	4	781	BAA23416.1
	AB005989.1	4	660	BAA22656.1
	AF020192.1	4	672	AAC51853.1
	AF246895.1	4	660	AAF64299.1
	AK314953.1	4	696
	BC136386.1	4	690
	DQ925362.1
	DQ925364.1
	DQ925365.1	1	469
	DQ925366.1	2	384
	DQ925367.1	2	460
	DQ925368.1	2	460
	DQ925369.1
	DQ925370.1
	DQ925371.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470296	Chr.12:57718406 - 57783509 on Build GRCh38	Loss	METTL1 CDK4 TSPAN31 OS9 TSFM MIR6759 CYP27B1 AGAP2-AS1 METTL21B MARCH9 AGAP2
nsv470297	Chr.12:57739473 - 57808636 on Build GRCh38	Gain	METTL1 CDK4 TSPAN31 TSFM MIR6759 CYP27B1 METTL21B MARCH9 AVIL AGAP2
nsv510601	Chr.12:57736515 - 57798142 on Build GRCh38	Deletion	METTL1 CDK4 TSPAN31 TSFM MIR6759 CYP27B1 METTL21B MARCH9 AVIL AGAP2