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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYP27B1 | NM_000785.3 | 1 | 258 | NP_000776.1 |
AB005038.1 | 1 | 227 | BAA23416.1 | |
AB005989.1 | 1 | 106 | BAA22656.1 | |
AF020192.1 | 1 | 118 | AAC51853.1 | |
AF246895.1 | 1 | 106 | AAF64299.1 | |
AK314953.1 | 1 | 142 | ||
BC136386.1 | 1 | 136 | ||
BP296031.1 | 1 | 258 |
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-AS1 AGAP2 CDK4 METTL1 MARCH9 OS9 TSPAN31 MIR6759 CYP27B1 |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | AGAP2 CDK4 AVIL METTL1 MARCH9 TSPAN31 TSFM MIR6759 CYP27B1 METTL21B |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | AGAP2 CDK4 AVIL METTL1 MARCH9 TSPAN31 TSFM MIR6759 CYP27B1 METTL21B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |