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 | 1660 | NP_000776.1 |
AB005038.1 | 9 | 1629 | BAA23416.1 | |
AB005989.1 | 9 | 1508 | BAA22656.1 | |
AF020192.1 | 9 | 1520 | AAC51853.1 | |
AF246895.1 | 9 | 1508 | AAF64299.1 | |
AK314953.1 | ||||
BC136386.1 | 9 | 1538 | ||
DQ925362.1 | 5 | 570 | ||
DQ925363.1 | 4 | 467 | ||
DQ925364.1 | 3 | 569 | ||
DQ925365.1 | 2 | 598 | ||
DQ925366.1 |
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 CYP27B1 CDK4 AGAP2-AS1 TSPAN31 METTL1 MARCH9 MIR6759 OS9 |
nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain | AGAP2 AVIL CYP27B1 CDK4 TSPAN31 METTL1 MARCH9 TSFM MIR6759 METTL21B |
nsv826384 | Chr.12:57730975 - 57764067 on Build GRCh38 | Gain | AGAP2 CYP27B1 CDK4 TSPAN31 MARCH9 MIR6759 |
nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion | AGAP2 AVIL CYP27B1 CDK4 TSPAN31 METTL1 MARCH9 TSFM MIR6759 METTL21B |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |