Product Details

SNP ID

rs146196986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218265060 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGGATCTCAGCCGTGTGGCCCC[A/G]GTAGTCAGTAAGCAGGCGGCCGGTC

Phenotype

MIM: 603488 MIM: 610147 MIM: 609023 MIM: 610364

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AAMP PubMed Links

Gene Details

Gene

AAMP

Gene Name

angio associated migratory cell protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001087.4	1312	Missense Mutation	CGG,TGG	R397W	NP_001078.2
NM_001302545.1	1312	Missense Mutation	CGG,TGG	R398W	NP_001289474.1

Gene

GPBAR1

Gene Name

G protein-coupled bile acid receptor 1

There are no transcripts associated with this gene.

Gene

PNKD

Gene Name

paroxysmal nonkinesigenic dyskinesia

There are no transcripts associated with this gene.

Gene

TMBIM1

Gene Name

transmembrane BAX inhibitor motif containing 1

There are no transcripts associated with this gene.

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