Product Details

SNP ID
rs201171840
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:42573789 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTGTACCAGCATTTAGCCCACT[A/G]TGTACCCAAAATCTACTGCAGGGGT
Phenotype
MIM: 609134
Polymorphism
A/G, 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_001184801.1 432 Missense Mutation TAT,TGT Y45C NP_001171730.1
NM_015255.2 432 Missense Mutation TAT,TGT Y45C NP_056070.1
XM_005248965.4 432 Missense Mutation TAT,TGT Y45C XP_005249022.1
XM_005248966.3 432 Intron XP_005249023.1
XM_011514438.2 432 Missense Mutation TAT,TGT Y72C XP_011512740.2
XM_011514439.1 432 Intron XP_011512741.1
XM_011514440.1 432 Intron XP_011512742.1
XM_011514441.2 432 Intron XP_011512743.1
XM_017010594.1 432 Missense Mutation TAT,TGT Y72C XP_016866083.1
XM_017010595.1 432 Missense Mutation TAT,TGT Y72C XP_016866084.1
XM_017010596.1 432 Missense Mutation TAT,TGT Y45C XP_016866085.1
XM_017010597.1 432 Missense Mutation TAT,TGT Y72C XP_016866086.1

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