Product Details

SNP ID
rs151046909
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:64094895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCATGGGTTGGAGGGCCGGCGTCC[A/G]CATAAAATCCAGCTTCACATCCAAG
Phenotype
MIM: 614797
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PELI1 PubMed Links

Gene Details

Gene
PELI1
Gene Name
pellino E3 ubiquitin protein ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020651.3 2183 Missense Mutation GCG,GTG A355V NP_065702.2
XM_005264437.3 2183 Missense Mutation GCG,GTG A257V XP_005264494.1
XM_011532994.2 2183 Missense Mutation GCG,GTG A355V XP_011531296.1
XM_011532996.2 2183 Missense Mutation GCG,GTG A257V XP_011531298.1
XM_011532997.2 2183 Missense Mutation GCG,GTG A176V XP_011531299.1
XM_017004520.1 2183 Missense Mutation GCG,GTG A355V XP_016860009.1
XM_017004521.1 2183 Missense Mutation GCG,GTG A289V XP_016860010.1

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