Product Details

SNP ID
rs113225722
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:279851 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTCCAGGGCTCGGGCTCGGCTCC[A/G]GGACGCTGCTCTCCGTGTCCGGTGG
Phenotype
MIM: 609650 MIM: 617032
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
NLRP6 PubMed Links

Gene Details

Gene
NLRP6
Gene Name
NLR family pyrin domain containing 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276700.1 533 Missense Mutation AGG,GGG R110G NP_001263629.1
NM_138329.2 533 Missense Mutation AGG,GGG R110G NP_612202.2
XM_011519931.1 533 Missense Mutation AGG,GGG R110G XP_011518233.1
XM_017017252.1 533 Missense Mutation AGG,GGG R110G XP_016872741.1
XM_017017253.1 533 Intron XP_016872742.1
Gene
PGGHG
Gene Name
protein-glucosylgalactosylhydroxylysine glucosidase
There are no transcripts associated with this gene.

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