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DHCR7

From SNPedia

is agene
is mentioned by
Full name7-dehydrocholesterol reductase
EntrezGene1717
PheGenI1717
VariationViewer1717
ClinVarDHCR7
GeneCardsDHCR7
dbSNP1717
DiseasesDHCR7
SADR1717
HugeNav1717
wikipediaDHCR7
googleDHCR7
gopubmedDHCR7
EVSDHCR7
HEFalMpDHCR7
MyGene2DHCR7
23andMeDHCR7
UniProtQ9UBM7
EnsemblENSG00000172893
OMIM602858
# SNPs83
 Max MagnitudeChromosome positionSummary
i5012826
rs104886032071,444,142
rs104886033371,444,952
rs104886034071,444,165
rs104886035371,444,163
rs104886036071,444,138
rs104886037071,444,129
rs104886038371,444,111
rs104886039371,444,022
rs104886040071,443,993
rs104886041371,444,018
rs104894212371,438,966
rs104894213371,441,400
rs1057516375
rs1057516493
rs1057516517
rs1057516610
rs1057516618
rs1057516783
rs1057516920
rs1057516973
rs1057516977
rs1057517070
rs1057517210
rs1057517307
rs1085307925
rs1085307926
rs11555217371,441,401
rs1160603371,443,158
rs121909764371,438,980
rs121909765371,437,909
rs121909766371,437,936
rs121909767371,444,950
rs121909768371,435,748
rs121912195371,442,349
rs138659167371,435,840
rs142808899371,437,868
rs143312232371,441,392
rs179032971,436,837
rs184297154371,437,923
rs200334114
rs201150384371,435,397
rs201270451371,435,419
rs28938174371,442,319
rs28939698071,438,966
rs368269558371,441,330
rs373121544371,439,040
rs373306653071,435,665
rs398123607371,437,934
rs535561852371,435,476
... further results

DHCR7 is the gene that produces the 7-dehydrocholesterol reductase enzyme which catalyses the production of cholesterol from 7-Dehydrocholesterol using NADPH.

Mutations in the DHCR7 gene may lead to Smith-Lemli-Opitz syndrome and are listed on that page.