Product Details

SNP ID
rs142067677
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:39289987 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGCCTTTATAGCTTGAAGTGAG[G/T]ATGGAGTAAGGTGGGCTTCCTTATT
Phenotype
MIM: 102579 MIM: 608151
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
RFC1 PubMed Links

Gene Details

Gene
RFC1
Gene Name
replication factor C subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204747.1 3283 Missense Mutation TAC,TCC Y1075S NP_001191676.1
NM_002913.4 3283 Missense Mutation TAC,TCC Y1074S NP_002904.3
XM_011513730.1 3283 Missense Mutation TAC,TCC Y1049S XP_011512032.1
XM_011513731.1 3283 Missense Mutation TAC,TCC Y905S XP_011512033.1
XM_017008528.1 3283 Missense Mutation TAC,TCC Y1048S XP_016864017.1
Gene
WDR19
Gene Name
WD repeat domain 19
There are no transcripts associated with this gene.

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