Product Details

SNP ID
rs182640954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:8094128 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTTCAGCCAAGAGAACCAAGGC[A/G]GCAGCTACAGCAGGGGGCCAGGGTG
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_001135109.2 532 Intron NP_001128581.1
NM_001206671.2 532 Intron NP_001193600.1
NM_001206672.2 532 Intron NP_001193601.1
NM_024557.4 532 Intron NP_078833.3
XM_006718317.3 532 Intron XP_006718380.1
XM_006718318.3 532 Intron XP_006718381.1
XM_006718321.3 532 Intron XP_006718384.1
XM_017018287.1 532 Intron XP_016873776.1
XM_017018288.1 532 Intron XP_016873777.1
XM_017018289.1 532 Intron XP_016873778.1
XM_017018290.1 532 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_003320.4 532 Silent Mutation GCA,GCG A167A NP_003311.2
NM_177972.2 532 Silent Mutation GCA,GCG A112A NP_813977.1
XM_005253109.3 532 Silent Mutation GCA,GCG A154A XP_005253166.1
XM_011520344.2 532 Silent Mutation GCA,GCG A124A XP_011518646.1

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