Product Details

SNP ID

rs112563616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73570615 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAGGCCCGCTTCAGGTGGCCCTG[A/C]ATCTCCTCCACCATGGCTCGGTGGC

Phenotype

MIM: 605842

Polymorphism

A/C, Transversion 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	1240	Missense Mutation	ATG,ATT	M412I	NP_036585.1
XM_006715923.3	1240	Missense Mutation	ATG,ATT	M379I	XP_006715986.1
XM_011516027.2	1240	Missense Mutation	ATG,ATT	M247I	XP_011514329.1

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