Product Details

SNP ID

rs138289645

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:24800244 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGATCTTTTCTAAGTTCCAAATAG[A/G]TGCCGTTGCTCACCCAAGAGTCATC

Phenotype

MIM: 606732

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OSBPL3 PubMed Links

Gene Details

Gene

OSBPL3

Gene Name

oxysterol binding protein like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015550.3	2977	Missense Mutation	ACC,ATC	T868I	NP_056365.1
NM_145320.2	2977	Missense Mutation	ACC,ATC	T837I	NP_663160.1
NM_145321.2	2977	Missense Mutation	ACC,ATC	T832I	NP_663161.1
NM_145322.2	2977	Missense Mutation	ACC,ATC	T801I	NP_663162.1
XM_005249698.3	2977	Missense Mutation	ACC,ATC	T868I	XP_005249755.1
XM_006715681.3	2977	Missense Mutation	ACC,ATC	T837I	XP_006715744.1
XM_006715682.3	2977	Missense Mutation	ACC,ATC	T832I	XP_006715745.1
XM_006715683.3	2977	Missense Mutation	ACC,ATC	T801I	XP_006715746.1
XM_006715684.3	2977	Missense Mutation	ACC,ATC	T515I	XP_006715747.1
XM_011515258.2	2977	Missense Mutation	ACC,ATC	T868I	XP_011513560.1
XM_011515259.2	2977	Missense Mutation	ACC,ATC	T824I	XP_011513561.1
XM_017011948.1	2977	Missense Mutation	ACC,ATC	T824I	XP_016867437.1
XM_017011949.1	2977	Missense Mutation	ACC,ATC	T788I	XP_016867438.1

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