Product Details

SNP ID
rs34549466
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:118035290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTCAGTGAGCTAATGTGGACGT[C/T]ACTGTCATCCATGGCGGGGTCAACC
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
There are no transcripts associated with this gene.

Gene
WSB2
Gene Name
WD repeat and SOCS box containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278557.1 931 Missense Mutation AAC,GAC N307D NP_001265486.1
NM_001278558.1 931 Missense Mutation AAC,GAC N80D NP_001265487.1
NM_018639.4 931 Missense Mutation AAC,GAC N290D NP_061109.1
XM_017019642.1 931 Missense Mutation AAC,GAC N80D XP_016875131.1

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