Product Details

SNP ID
rs10396214
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:124778538 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCGGGGTGTAGGGGCTGGGGGGCC[A/G]GTCAGGCCCAGCGGCCAGGCCTGGC
Phenotype
MIM: 601040
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCARB1 PubMed Links

Gene Details

Gene
SCARB1
Gene Name
scavenger receptor class B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001082959.1 1703 Missense Mutation CGG,TGG R484W NP_001076428.1
NM_005505.4 1703 UTR 3 NP_005496.4

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