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 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYP27B1 | NM_000785.3 | 9 | 2310 | NP_000776.1 |
AB005038.1 | 9 | 2279 | BAA23416.1 | |
AB005989.1 | 9 | 2158 | BAA22656.1 | |
AF020192.1 | 9 | 2170 | AAC51853.1 | |
AW449645.1 | 1 | 194 | ||
BC136386.1 | 9 | 2188 |
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 | CYP27B1 AGAP2-AS1 MARCH9 AGAP2 TSPAN31 METTL1 MIR6759 CDK4 OS9 |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | CYP27B1 MARCH9 AGAP2 TSPAN31 METTL1 TSFM AVIL MIR6759 CDK4 METTL21B |
nsv826384 | Chr.12:57730975 - 57764067 on Build GRCh38 | Gain | CYP27B1 MARCH9 AGAP2 TSPAN31 MIR6759 CDK4 |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | CYP27B1 MARCH9 AGAP2 TSPAN31 METTL1 TSFM AVIL MIR6759 CDK4 METTL21B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |