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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