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 Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DHCR7 | NM_001163817.1 | 9 | 2278 | NP_001157289.1 |
NM_001360.2 | 9 | 2301 | NP_001351.2 | |
XM_011544777.1 | 9 | 2385 | XP_011543079.1 | |
AF034544.1 | 9 | 2222 | AAC05086.1 | |
AF067127.1 | 8 | 2130 | AAD02816.1 | |
AF096305.1 | 7 | 2033 | AAD09766.1 | |
AI888720.1 | 1 | 377 | ||
AK289497.1 | 9 | 2256 | ||
AK309625.1 | ||||
BC000054.2 | 9 | 2203 | AAH00054.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv518163 | Chr.11:71431304 - 71444107 on Build GRCh38 | Loss |
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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)