Product Details

SNP ID
rs200909291
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:218262860 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCATCGCCTGGGACCGCCGCCTG[C/T]GCAGCCCACCTGCTGGCTGCTTCTT
Phenotype
MIM: 603488 MIM: 604224 MIM: 610147 MIM: 609023
Polymorphism
C/T, 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 1721 Missense Mutation CGC,TGC R46C NP_001070659.1
NM_001077194.1 1721 Missense Mutation CGC,TGC R46C NP_001070662.1
NM_001321950.1 1721 Missense Mutation CGC,TGC R46C NP_001308879.1
NM_170699.2 1721 Missense Mutation CGC,TGC R46C NP_733800.1
XM_011510743.1 1721 Missense Mutation CGC,TGC R46C XP_011509045.1
XM_017003467.1 1721 Missense Mutation CGC,TGC R46C XP_016858956.1
XM_017003468.1 1721 Missense Mutation CGC,TGC R46C XP_016858957.1
XM_017003469.1 1721 Missense Mutation CGC,TGC R46C XP_016858958.1
Gene
PNKD
Gene Name
paroxysmal nonkinesigenic dyskinesia
There are no transcripts associated with this gene.

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