Product Details

SNP ID
rs200010375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218262890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACCTGCTGGCTGCTTCTTCCTG[A/G]GCCTACTGCTGGCTGGGCTGCTCAC
Phenotype
MIM: 603488 MIM: 604224 MIM: 610147 MIM: 609023
Polymorphism
A/G, Transition 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
ARPC2
Gene Name
actin related protein 2/3 complex subunit 2
There are no transcripts associated with this gene.

Gene
GPBAR1
Gene Name
G protein-coupled bile acid receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077191.1 1751 Missense Mutation AGC,GGC S56G NP_001070659.1
NM_001077194.1 1751 Missense Mutation AGC,GGC S56G NP_001070662.1
NM_001321950.1 1751 Missense Mutation AGC,GGC S56G NP_001308879.1
NM_170699.2 1751 Missense Mutation AGC,GGC S56G NP_733800.1
XM_011510743.1 1751 Missense Mutation AGC,GGC S56G XP_011509045.1
XM_017003467.1 1751 Missense Mutation AGC,GGC S56G XP_016858956.1
XM_017003468.1 1751 Missense Mutation AGC,GGC S56G XP_016858957.1
XM_017003469.1 1751 Missense Mutation AGC,GGC S56G XP_016858958.1
Gene
PNKD
Gene Name
paroxysmal nonkinesigenic dyskinesia
There are no transcripts associated with this gene.

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