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 | 2528 | NP_001157289.1 |
NM_001360.2 | 9 | 2551 | NP_001351.2 | |
XM_011544777.1 | 9 | 2635 | XP_011543079.1 | |
AF034544.1 | 9 | 2472 | AAC05086.1 | |
AF067127.1 | 8 | 2380 | AAD02816.1 | |
AF096305.1 | 7 | 2283 | AAD09766.1 | |
AI888720.1 | 1 | 127 | ||
AK309625.1 | ||||
BC000054.2 | 9 | 2453 | 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 | DHCR7 |
dgv74n21 | Chr.11:71357749 - 71504834 on Build GRCh38 | Loss | DHCR7 MIR6754 NADSYN1 FLJ42102 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |