Product Details

SNP ID
rs199506852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:71435422 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTAAGGCACTGCGGCGGTGTAGC[A/G]CTCCCAGTCCCGGCCGTACTTGCTG
Phenotype
MIM: 602858
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DHCR7 PubMed Links

Gene Details

Gene
DHCR7
Gene Name
7-dehydrocholesterol reductase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163817.1 1631 Missense Mutation CGC,TGC R461C NP_001157289.1
NM_001360.2 1631 Missense Mutation CGC,TGC R461C NP_001351.2
XM_011544777.1 1631 UTR 3 XP_011543079.1

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