Product Details

SNP ID
rs201857968
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:8095592 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCCAGTCAGACCACGCCCAGGA[C/T]GCAGGGGAGACGGCAGCTGGTGGGG
Phenotype
MIM: 610509 MIM: 601197
Polymorphism
C/T, 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_001135109.2 688 Intron NP_001128581.1
NM_001206671.2 688 Intron NP_001193600.1
NM_001206672.2 688 Intron NP_001193601.1
NM_024557.4 688 Intron NP_078833.3
XM_006718317.3 688 Intron XP_006718380.1
XM_006718318.3 688 Intron XP_006718381.1
XM_006718321.3 688 Intron XP_006718384.1
XM_017018287.1 688 Intron XP_016873776.1
XM_017018288.1 688 Intron XP_016873777.1
XM_017018289.1 688 Intron XP_016873778.1
XM_017018290.1 688 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_003320.4 688 Silent Mutation GAC,GAT D219D NP_003311.2
NM_177972.2 688 Silent Mutation GAC,GAT D164D NP_813977.1
XM_005253109.3 688 Missense Mutation GAC,GAT D206D XP_005253166.1
XM_011520344.2 688 Missense Mutation GAC,GAT D176D XP_011518646.1

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