Assay Details
Target Gene Details
Entrez Gene ID: | 1717 |
Gene Name: | 7-dehydrocholesterol reductase |
Gene Aliases: |
SLOS |
Location: |
Chr.11:71434411-71448431 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DHCR7 | NM_001163817.1 | NP_001157289.1 | ||
NM_001360.2 | NP_001351.2 | |||
XM_011544777.1 | XP_011543079.1 | |||
AF034544.1 | AAC05086.1 | |||
AF067127.1 | AAD02816.1 | |||
AK289497.1 | ||||
AK303881.1 | ||||
AK312775.1 | ||||
BC000054.2 | AAH00054.1 | |||
BU848891.1 | ||||
DA502590.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv74n21 | Chr.11:71357749 - 71504834 on Build GRCh38 | Loss |
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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)