Product Details

SNP ID

rs143927692

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:24800257 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCCAAATAGGTGCCGTTGCTCA[A/C]CCAAGAGTCATCGTCGGATTTCCTG

Phenotype

MIM: 606732

Polymorphism

A/C, Transversion 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	2964	Missense Mutation	GTG,TTG	V864L	NP_056365.1
NM_145320.2	2964	Missense Mutation	GTG,TTG	V833L	NP_663160.1
NM_145321.2	2964	Missense Mutation	GTG,TTG	V828L	NP_663161.1
NM_145322.2	2964	Missense Mutation	GTG,TTG	V797L	NP_663162.1
XM_005249698.3	2964	Missense Mutation	GTG,TTG	V864L	XP_005249755.1
XM_006715681.3	2964	Missense Mutation	GTG,TTG	V833L	XP_006715744.1
XM_006715682.3	2964	Missense Mutation	GTG,TTG	V828L	XP_006715745.1
XM_006715683.3	2964	Missense Mutation	GTG,TTG	V797L	XP_006715746.1
XM_006715684.3	2964	Missense Mutation	GTG,TTG	V511L	XP_006715747.1
XM_011515258.2	2964	Missense Mutation	GTG,TTG	V864L	XP_011513560.1
XM_011515259.2	2964	Missense Mutation	GTG,TTG	V820L	XP_011513561.1
XM_017011948.1	2964	Missense Mutation	GTG,TTG	V820L	XP_016867437.1
XM_017011949.1	2964	Missense Mutation	GTG,TTG	V784L	XP_016867438.1

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