Product Details

SNP ID
rs145093422
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:118034343 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTAGGAGCTGTCCAGAACTGGAC[A/G]TGGCCATCTCTTGTCCTAAAATGAA
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 1131 Intron NP_001123584.1
NM_001206801.1 1131 Intron NP_001193730.1
NM_007370.5 1131 Intron NP_031396.1
NM_181578.3 1131 Intron NP_853556.2
XM_011538643.2 1131 Intron XP_011536945.1
XM_011538645.2 1131 Intron XP_011536947.1
XM_017019779.1 1131 Intron XP_016875268.1
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 1131 Silent Mutation CAC,CAT H373H NP_001265486.1
NM_001278558.1 1131 Silent Mutation CAC,CAT H146H NP_001265487.1
NM_018639.4 1131 Silent Mutation CAC,CAT H356H NP_061109.1
XM_017019642.1 1131 Silent Mutation CAC,CAT H146H XP_016875131.1

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