Product Details

SNP ID

rs200199701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47698604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCTCTCTCTCCAGAGGGCCCTG[A/G]TGGAGACGCACCTGCGTCAGATCTG

Phenotype

MIM: 608476

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TBKBP1 PubMed Links

Gene Details

Gene

TBKBP1

Gene Name

TBK1 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014726.2	1312	Missense Mutation	ATG,GTG	M155V	NP_055541.1
XM_005257859.4	1312	Missense Mutation	ATG,GTG	M155V	XP_005257916.1
XM_005257860.4	1312	Missense Mutation	ATG,GTG	M155V	XP_005257917.1
XM_005257861.4	1312	Missense Mutation	ATG,GTG	M155V	XP_005257918.1
XM_005257862.3	1312	Missense Mutation	ATG,GTG	M155V	XP_005257919.1
XM_017025431.1	1312	Missense Mutation	ATG,GTG	M155V	XP_016880920.1
XM_017025432.1	1312	Missense Mutation	ATG,GTG	M153V	XP_016880921.1

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