Product Details

SNP ID

rs200072505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73570769 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAAAGCACTCCTCCTTCTCGCCC[C/T]GCCGGGTATTGTAGAGATGAATACT

Phenotype

MIM: 605842

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TBL2 PubMed Links

Gene Details

Gene

TBL2

Gene Name

transducin (beta)-like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012453.2	1086	Missense Mutation	CAG,CGG	Q361R	NP_036585.1
XM_006715923.3	1086	Missense Mutation	CAG,CGG	Q328R	XP_006715986.1
XM_011516027.2	1086	Missense Mutation	CAG,CGG	Q196R	XP_011514329.1

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