Product Details

SNP ID
rs147246689
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:8095507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCGTGGCCTGCAGGCACCAGCG[A/G]GCCAGCAGCACTGGCAGAAGACAAG
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_001135109.2 603 Intron NP_001128581.1
NM_001206671.2 603 Intron NP_001193600.1
NM_001206672.2 603 Intron NP_001193601.1
NM_024557.4 603 Intron NP_078833.3
XM_006718317.3 603 Intron XP_006718380.1
XM_006718318.3 603 Intron XP_006718381.1
XM_006718321.3 603 Intron XP_006718384.1
XM_017018287.1 603 Intron XP_016873776.1
XM_017018288.1 603 Intron XP_016873777.1
XM_017018289.1 603 Intron XP_016873778.1
XM_017018290.1 603 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_003320.4 603 Missense Mutation GAG,GGG E191G NP_003311.2
NM_177972.2 603 Missense Mutation GAG,GGG E136G NP_813977.1
XM_005253109.3 603 Missense Mutation GAG,GGG E178G XP_005253166.1
XM_011520344.2 603 Missense Mutation GAG,GGG E148G XP_011518646.1

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