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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DHCR7 | NM_001163817.1 | 2 | 156 | NP_001157289.1 |
NM_001360.2 | 2 | 179 | NP_001351.2 | |
XM_011544777.1 | 2 | 129 | XP_011543079.1 | |
AF034544.1 | 2 | 100 | AAC05086.1 | |
AF067127.1 | AAD02816.1 | |||
AK289497.1 | 2 | 134 | ||
AK303881.1 | 2 | 150 | ||
AK312775.1 | 2 | 133 | ||
BC000054.2 | 2 | 81 | AAH00054.1 | |
BU848891.1 | 2 | 63 | ||
DA502590.1 | 2 | 179 |
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 | DHCR7 FLJ42102 NADSYN1 MIR6754 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |