Product Details

SNP ID

rs138682078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:76358767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGGAATAGCCTTTTGCTACTTT[A/C]TTCTGTTGCCTGGTTGGCTTATGTT

Phenotype

MIM: 606736

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

OSBPL8 PubMed Links

Gene Details

Gene

OSBPL8

Gene Name

oxysterol binding protein like 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003712.1	2951	Missense Mutation	AAG,AAT	K749N	NP_001003712.1
NM_001319652.1	2951	Missense Mutation	AAG,AAT	K749N	NP_001306581.1
NM_001319653.1	2951	Missense Mutation	AAG,AAT	K788N	NP_001306582.1
NM_001319655.1	2951	Missense Mutation	AAG,AAT	K766N	NP_001306584.1
NM_020841.4	2951	Missense Mutation	AAG,AAT	K791N	NP_065892.1
XM_005268621.4	2951	Missense Mutation	AAG,AAT	K791N	XP_005268678.1
XM_006719224.2	2951	Missense Mutation	AAG,AAT	K749N	XP_006719287.1
XM_011537855.2	2951	Missense Mutation	AAG,AAT	K801N	XP_011536157.1
XM_011537856.2	2951	Missense Mutation	AAG,AAT	K804N	XP_011536158.1
XM_011537857.2	2951	Missense Mutation	AAG,AAT	K804N	XP_011536159.1
XM_017018768.1	2951	Missense Mutation	AAG,AAT	K814N	XP_016874257.1
XM_017018769.1	2951	Missense Mutation	AAG,AAT	K788N	XP_016874258.1

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