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 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYP27B1 | NM_000785.3 | 5 | 998 | NP_000776.1 |
AB005038.1 | 5 | 967 | BAA23416.1 | |
AB005989.1 | 5 | 846 | BAA22656.1 | |
AF020192.1 | 5 | 858 | AAC51853.1 | |
AF246895.1 | 5 | 846 | AAF64299.1 | |
AK314953.1 | 5 | 882 | ||
BC136386.1 | 5 | 876 | ||
DQ925362.1 | ||||
DQ925364.1 | ||||
DQ925365.1 | ||||
DQ925366.1 | ||||
DQ925367.1 | 3 | 646 | ||
DQ925368.1 | 3 | 646 | ||
DQ925369.1 | 3 | 199 | ||
DQ925370.1 | 3 | 214 | ||
DQ925371.1 |
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 |
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nsv470297 | Chr.12:57739473 - 57808636 on Build GRCh38 | Gain |
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nsv510601 | Chr.12:57736515 - 57798142 on Build GRCh38 | Deletion |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Panther Classification:
Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)