Product Details

SNP ID

rs200069797

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73570773 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCACTCCTCCTTCTCGCCCCGCC[A/G]GGTATTGTAGAGATGAATACTACTG

Phenotype

MIM: 605842

Polymorphism

A/G, 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	1082	Missense Mutation	CGG,TGG	R360W	NP_036585.1
XM_006715923.3	1082	Missense Mutation	CGG,TGG	R327W	XP_006715986.1
XM_011516027.2	1082	Missense Mutation	CGG,TGG	R195W	XP_011514329.1

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