Product Details

SNP ID

rs142150744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:229768717 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTCAAACAAAAACTTCACAGCC[C/T]GACTATAACAGAAATAAATATACCA

Phenotype

MIM: 604506

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TRIP12 PubMed Links

Gene Details

Gene

TRIP12

Gene Name

thyroid hormone receptor interactor 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284214.1	5949	Missense Mutation	CAG,CGG	Q1942R	NP_001271143.1
NM_001284215.1	5949	Missense Mutation	CAG,CGG	Q1927R	NP_001271144.1
NM_001284216.1	5949	Missense Mutation	CAG,CGG	Q1624R	NP_001271145.1
NM_004238.2	5949	Missense Mutation	CAG,CGG	Q1894R	NP_004229.1
XM_005246954.4	5949	Missense Mutation	CAG,CGG	Q1970R	XP_005247011.1
XM_005246955.4	5949	Missense Mutation	CAG,CGG	Q1970R	XP_005247012.1
XM_005246956.4	5949	Missense Mutation	CAG,CGG	Q1969R	XP_005247013.1
XM_005246957.4	5949	Missense Mutation	CAG,CGG	Q1965R	XP_005247014.1
XM_005246958.4	5949	Missense Mutation	CAG,CGG	Q1943R	XP_005247015.1
XM_005246960.4	5949	Missense Mutation	CAG,CGG	Q1941R	XP_005247017.1
XM_005246961.3	5949	Missense Mutation	CAG,CGG	Q1928R	XP_005247018.1
XM_005246962.4	5949	Missense Mutation	CAG,CGG	Q1927R	XP_005247019.1
XM_006712852.3	5949	Missense Mutation	CAG,CGG	Q1928R	XP_006712915.1
XM_011512180.2	5949	Missense Mutation	CAG,CGG	Q1970R	XP_011510482.1
XM_011512181.2	5949	Missense Mutation	CAG,CGG	Q1970R	XP_011510483.1
XM_011512183.2	5949	Missense Mutation	CAG,CGG	Q1928R	XP_011510485.1
XM_017005272.1	5949	Missense Mutation	CAG,CGG	Q1970R	XP_016860761.1
XM_017005273.1	5949	Missense Mutation	CAG,CGG	Q1970R	XP_016860762.1
XM_017005274.1	5949	Missense Mutation	CAG,CGG	Q1970R	XP_016860763.1
XM_017005275.1	5949	Missense Mutation	CAG,CGG	Q1969R	XP_016860764.1
XM_017005276.1	5949	Missense Mutation	CAG,CGG	Q1969R	XP_016860765.1
XM_017005277.1	5949	Missense Mutation	CAG,CGG	Q1969R	XP_016860766.1
XM_017005278.1	5949	Missense Mutation	CAG,CGG	Q1969R	XP_016860767.1
XM_017005279.1	5949	Missense Mutation	CAG,CGG	Q1964R	XP_016860768.1
XM_017005280.1	5949	Missense Mutation	CAG,CGG	Q1964R	XP_016860769.1
XM_017005281.1	5949	Missense Mutation	CAG,CGG	Q1942R	XP_016860770.1
XM_017005282.1	5949	Missense Mutation	CAG,CGG	Q1941R	XP_016860771.1
XM_017005283.1	5949	Missense Mutation	CAG,CGG	Q1937R	XP_016860772.1
XM_017005284.1	5949	Missense Mutation	CAG,CGG	Q1935R	XP_016860773.1
XM_017005285.1	5949	Missense Mutation	CAG,CGG	Q1928R	XP_016860774.1
XM_017005286.1	5949	Missense Mutation	CAG,CGG	Q1927R	XP_016860775.1
XM_017005287.1	5949	Missense Mutation	CAG,CGG	Q1922R	XP_016860776.1
XM_017005288.1	5949	Missense Mutation	CAG,CGG	Q1922R	XP_016860777.1
XM_017005289.1	5949	Missense Mutation	CAG,CGG	Q1914R	XP_016860778.1
XM_017005290.1	5949	Missense Mutation	CAG,CGG	Q1913R	XP_016860779.1
XM_017005291.1	5949	Missense Mutation	CAG,CGG	Q1899R	XP_016860780.1
XM_017005292.1	5949	Missense Mutation	CAG,CGG	Q1895R	XP_016860781.1
XM_017005293.1	5949	Missense Mutation	CAG,CGG	Q1900R	XP_016860782.1

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