Product Details

SNP ID
rs186946332
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47808380 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTTGGTCACCCACCACTCTTTCC[C/T]GCTGCTATCCGTCTGCCGCCTGGTG
Phenotype
MIM: 606735
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
OSBPL7 PubMed Links

Gene Details

Gene
OSBPL7
Gene Name
oxysterol binding protein like 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145798.2 2921 Missense Mutation AGG,GGG R814G NP_665741.1
XM_017024122.1 2921 Missense Mutation AGG,GGG R860G XP_016879611.1
XM_017024123.1 2921 Missense Mutation AGG,GGG R860G XP_016879612.1
XM_017024124.1 2921 Missense Mutation AGG,GGG R842G XP_016879613.1
XM_017024125.1 2921 Missense Mutation AGG,GGG R422G XP_016879614.1

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