Product Details

SNP ID
rs141341931
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:8095652 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCGGGCAGGATCTCCGTGCCAC[A/G]ATGCAGAGGAAGGGTGAGCCCCATG
Phenotype
MIM: 610509 MIM: 601197
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RIC3 PubMed Links

Gene Details

Gene
RIC3
Gene Name
RIC3 acetylcholine receptor chaperone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135109.2 748 Intron NP_001128581.1
NM_001206671.2 748 Intron NP_001193600.1
NM_001206672.2 748 Intron NP_001193601.1
NM_024557.4 748 Intron NP_078833.3
XM_006718317.3 748 Intron XP_006718380.1
XM_006718318.3 748 Intron XP_006718381.1
XM_006718321.3 748 Intron XP_006718384.1
XM_017018287.1 748 Intron XP_016873776.1
XM_017018288.1 748 Intron XP_016873777.1
XM_017018289.1 748 Intron XP_016873778.1
XM_017018290.1 748 Intron XP_016873779.1
Gene
TUB
Gene Name
tubby bipartite transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003320.4 748 Silent Mutation ACA,ACG T239T NP_003311.2
NM_177972.2 748 Silent Mutation ACA,ACG T184T NP_813977.1
XM_005253109.3 748 Silent Mutation ACA,ACG T226T XP_005253166.1
XM_011520344.2 748 Silent Mutation ACA,ACG T196T XP_011518646.1

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