Product Details

SNP ID
rs121434513
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218271410 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCGCAGGAGCCACAGCTAACAAG[C/G]CTTCTCATAACAGGACCCGGGCCCT
Phenotype
MIM: 603488 MIM: 610147 MIM: 609023 MIM: 610364
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
AAMP PubMed Links

Gene Details

Gene
AAMP
Gene Name
angio associated migratory cell protein
There are no transcripts associated with this gene.

Gene
GPBAR1
Gene Name
G protein-coupled bile acid receptor 1
There are no transcripts associated with this gene.

Gene
MIR6513
Gene Name
microRNA 6513
There are no transcripts associated with this gene.

Gene
PNKD
Gene Name
paroxysmal nonkinesigenic dyskinesia
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077399.2 241 Intron NP_001070867.1
NM_015488.4 241 Missense Mutation CCT,GCT P33A NP_056303.3
NM_022572.4 241 Intron NP_072094.1
XM_017003771.1 241 Missense Mutation CCT,GCT P33A XP_016859260.1
XM_017003772.1 241 Intron XP_016859261.1
Gene
TMBIM1
Gene Name
transmembrane BAX inhibitor motif containing 1
There are no transcripts associated with this gene.

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