Product Details

SNP ID

rs201229460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:38942332 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATTCAGCAGATGTATCAACTATA[A/G]GTTGCTTTGGTGGTGTTGCCAACAC

Phenotype

MIM: 601743 MIM: 609022

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

OSMR PubMed Links

Gene Details

Gene

OSMR

Gene Name

oncostatin M receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168355.2	5014	Intron			NP_001161827.1
NM_001323504.1	5014	Intron			NP_001310433.1
NM_001323505.1	5014	Intron			NP_001310434.1
NM_001323506.1	5014	Intron			NP_001310435.1
NM_001323507.1	5014	Intron			NP_001310436.1
NM_003999.2	5014	Intron			NP_003990.1
XM_005248384.1	5014	Intron			XP_005248441.1
XM_005248386.2	5014	Intron			XP_005248443.1
XM_005248387.2	5014	Intron			XP_005248444.1
XM_011514161.2	5014	Intron			XP_011512463.1
XM_017010019.1	5014	Intron			XP_016865508.1
XM_017010020.1	5014	Intron			XP_016865509.1

Gene

RICTOR

Gene Name

RPTOR independent companion of MTOR complex 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001285439.1	5014	Missense Mutation	CCT,CTT	P1724L	NP_001272368.1
NM_001285440.1	5014	Missense Mutation	CCT,CTT	P1377L	NP_001272369.1
NM_152756.4	5014	Missense Mutation	CCT,CTT	P1700L	NP_689969.2
XM_006714463.3	5014	Missense Mutation	CCT,CTT	P1662L	XP_006714526.1
XM_011514005.2	5014	Missense Mutation	CCT,CTT	P1686L	XP_011512307.1
XM_011514006.2	5014	Missense Mutation	CCT,CTT	P1661L	XP_011512308.1
XM_017009311.1	5014	Missense Mutation	CCT,CTT	P1708L	XP_016864800.1
XM_017009312.1	5014	Missense Mutation	CCT,CTT	P1684L	XP_016864801.1
XM_017009313.1	5014	Missense Mutation	CCT,CTT	P1671L	XP_016864802.1
XM_017009314.1	5014	Missense Mutation	CCT,CTT	P1439L	XP_016864803.1
XM_017009315.1	5014	Missense Mutation	CCT,CTT	P1415L	XP_016864804.1

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