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 | 2039 | NP_001157289.1 |
NM_001360.2 | 9 | 2062 | NP_001351.2 | |
XM_011544777.1 | 9 | 2146 | XP_011543079.1 | |
AF034544.1 | 9 | 1983 | AAC05086.1 | |
AF062481.1 | 7 | 1752 | AAC18345.1 | |
AF067127.1 | 8 | 1891 | AAD02816.1 | |
AF096305.1 | 7 | 1794 | AAD09766.1 | |
AK289497.1 | 9 | 2017 | ||
AK303881.1 | ||||
AK309625.1 | ||||
BC000054.2 | 9 | 1964 | 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 | MIR6754 NADSYN1 DHCR7 FLJ42102 |
More Information
Additional Information:
For this assay, SNP(s) [rs78575838] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |