Product Details

SNP ID

rs149685073

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73570742 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGGCGATACACTCGCCATGGACC[C/T]GCTCAAAGCACTCCTCCTTCTCGCC

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	1113	Missense Mutation	CAG,CGG	Q370R	NP_036585.1
XM_006715923.3	1113	Missense Mutation	CAG,CGG	Q337R	XP_006715986.1
XM_011516027.2	1113	Missense Mutation	CAG,CGG	Q205R	XP_011514329.1

View Full Product Details