Product Details

SNP ID

rs148420169

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:59576701 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCGCTCAAACCACAGTGCCTTA[C/T]AGGGATCATATGGTGTGCCTAAAAG

Phenotype

MIM: 167040

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

OSBP PubMed Links

Gene Details

Gene

OSBP

Gene Name

oxysterol binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002556.2	2780	Missense Mutation	TAT,TGT	Y767C	NP_002547.1

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