Product Details

SNP ID

rs143270711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30695270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGTAGGGGCTGGGCCCTTCACT[A/G]AGGCCGCATCGGAGCCGCTCTCCCG

Phenotype

MIM: 606729

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OSBP2 PubMed Links

Gene Details

Gene

OSBP2

Gene Name

oxysterol binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282738.1	391	Intron			NP_001269667.1
NM_001282739.1	391	Missense Mutation	AAG,GAG	K121E	NP_001269668.1
NM_001282740.1	391	Intron			NP_001269669.1
NM_001282741.1	391	Intron			NP_001269670.1
NM_001282742.1	391	Intron			NP_001269671.1
NM_030758.3	391	Missense Mutation	AAG,GAG	K121E	NP_110385.1
XM_005261465.4	391	Missense Mutation	AAG,GAG	K121E	XP_005261522.1
XM_006724203.2	391	Missense Mutation	AAG,GAG	K121E	XP_006724266.2
XM_006724207.2	391	Intron			XP_006724270.1
XM_006724208.3	391	Intron			XP_006724271.1
XM_011530057.1	391	Missense Mutation	AAG,GAG	K121E	XP_011528359.1
XM_011530058.1	391	Missense Mutation	AAG,GAG	K121E	XP_011528360.1
XM_011530059.2	391	Missense Mutation	AAG,GAG	K121E	XP_011528361.1
XM_011530060.1	391	Intron			XP_011528362.1
XM_011530061.1	391	Intron			XP_011528363.1
XM_011530062.1	391	Intron			XP_011528364.1
XM_017028708.1	391	Missense Mutation	AAG,GAG	K121E	XP_016884197.1
XM_017028709.1	391	Missense Mutation	AAG,GAG	K121E	XP_016884198.1
XM_017028710.1	391	Intron			XP_016884199.1
XM_017028711.1	391	UTR 5			XP_016884200.1
XM_017028712.1	391	Intron			XP_016884201.1
XM_017028713.1	391	UTR 5			XP_016884202.1

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