Product Details

SNP ID
rs139450403
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:42573783 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTAGAGAAGTGTACCAGCATTTAG[C/T]CCACTATGTACCCAAAATCTACTGC
Phenotype
MIM: 609134
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UBR2 PubMed Links

Gene Details

Gene
UBR2
Gene Name
ubiquitin protein ligase E3 component n-recognin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184801.1 426 Missense Mutation GCC,GTC A43V NP_001171730.1
NM_015255.2 426 Missense Mutation GCC,GTC A43V NP_056070.1
XM_005248965.4 426 Missense Mutation GCC,GTC A43V XP_005249022.1
XM_005248966.3 426 Intron XP_005249023.1
XM_011514438.2 426 Missense Mutation GCC,GTC A70V XP_011512740.2
XM_011514439.1 426 Intron XP_011512741.1
XM_011514440.1 426 Intron XP_011512742.1
XM_011514441.2 426 Intron XP_011512743.1
XM_017010594.1 426 Missense Mutation GCC,GTC A70V XP_016866083.1
XM_017010595.1 426 Missense Mutation GCC,GTC A70V XP_016866084.1
XM_017010596.1 426 Missense Mutation GCC,GTC A43V XP_016866085.1
XM_017010597.1 426 Missense Mutation GCC,GTC A70V XP_016866086.1

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