Product Details

SNP ID
rs201058847
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:118019678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGACTGCCACACTTGCTTCTCTA[C/T]GGTCCCCCAGGGACAGGCAAGACAT
Phenotype
MIM: 600407
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RFC5 PubMed Links

Gene Details

Gene
RFC5
Gene Name
replication factor C subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130112.2 302 UTR 5 NP_001123584.1
NM_001206801.1 302 Silent Mutation TAC,TAT Y59Y NP_001193730.1
NM_007370.5 302 Silent Mutation TAC,TAT Y59Y NP_031396.1
NM_181578.3 302 Silent Mutation TAC,TAT Y38Y NP_853556.2
XM_011538643.2 302 Silent Mutation TAC,TAT Y59Y XP_011536945.1
XM_011538645.2 302 Silent Mutation TAC,TAT Y59Y XP_011536947.1
XM_017019779.1 302 Silent Mutation TAC,TAT Y59Y XP_016875268.1

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