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: | Overlaps Intron 1 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYP27B1 | NM_000785.3 | NP_000776.1 | ||
AB005038.1 | BAA23416.1 | |||
AB005989.1 | BAA22656.1 | |||
AF020192.1 | AAC51853.1 | |||
AF246895.1 | AAF64299.1 | |||
AK314953.1 | ||||
BC136386.1 | ||||
BP296031.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv559045 | Chr.12:57718406 - 57771302 on Build GRCh38 | Loss | AGAP2 AGAP2-AS1 TSPAN31 METTL1 CYP27B1 MARCH9 OS9 CDK4 MIR6759 |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | AGAP2 AVIL TSFM TSPAN31 METTL1 CYP27B1 MARCH9 CDK4 METTL21B MIR6759 |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | AGAP2 AVIL TSFM TSPAN31 METTL1 CYP27B1 MARCH9 CDK4 METTL21B MIR6759 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |