Product Details

SNP ID
rs147390839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:118016847 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGCCATGGAGACCTCAGCACTCA[A/G]GCAGCAGGAGCAGCCCGCGGCGACC
Phenotype
MIM: 600407
Polymorphism
A/G, 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_001130112.2 145 UTR 5 NP_001123584.1
NM_001206801.1 145 Missense Mutation AAG,AGG K7R NP_001193730.1
NM_007370.5 145 Missense Mutation AAG,AGG K7R NP_031396.1
NM_181578.3 145 UTR 5 NP_853556.2
XM_011538643.2 145 Missense Mutation AAG,AGG K7R XP_011536945.1
XM_011538645.2 145 Missense Mutation AAG,AGG K7R XP_011536947.1
XM_017019779.1 145 Missense Mutation AAG,AGG K7R XP_016875268.1

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