Product Details

SNP ID

rs139154799

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:24800272 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTTGCTCACCCAAGAGTCATCGT[C/T]GGATTTCCTGTGAAAGAAGAAACAA

Phenotype

MIM: 606732

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

OSBPL3 PubMed Links

Additional Information

For this assay, SNP(s) [rs6966239] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2949	Missense Mutation	AAC,GAC	N859D	NP_056365.1
NM_145320.2	2949	Missense Mutation	AAC,GAC	N828D	NP_663160.1
NM_145321.2	2949	Missense Mutation	AAC,GAC	N823D	NP_663161.1
NM_145322.2	2949	Missense Mutation	AAC,GAC	N792D	NP_663162.1
XM_005249698.3	2949	Missense Mutation	AAC,GAC	N859D	XP_005249755.1
XM_006715681.3	2949	Missense Mutation	AAC,GAC	N828D	XP_006715744.1
XM_006715682.3	2949	Missense Mutation	AAC,GAC	N823D	XP_006715745.1
XM_006715683.3	2949	Missense Mutation	AAC,GAC	N792D	XP_006715746.1
XM_006715684.3	2949	Missense Mutation	AAC,GAC	N506D	XP_006715747.1
XM_011515258.2	2949	Missense Mutation	AAC,GAC	N859D	XP_011513560.1
XM_011515259.2	2949	Missense Mutation	AAC,GAC	N815D	XP_011513561.1
XM_017011948.1	2949	Missense Mutation	AAC,GAC	N815D	XP_016867437.1
XM_017011949.1	2949	Missense Mutation	AAC,GAC	N779D	XP_016867438.1

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