Product Details

SNP ID
rs41281892
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:410002 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGAGTGTGCAACTGAAGCCTGA[A/G]GTCTCCCCAACGCAGGACATCAGGT
Phenotype
MIM: 610924
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
RBCK1 PubMed Links

Gene Details

Gene
RBCK1
Gene Name
RANBP2-type and C3HC4-type zinc finger containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323956.1 648 UTR 5 NP_001310885.1
NM_001323958.1 648 Intron NP_001310887.1
NM_001323960.1 648 Silent Mutation GAA,GAG E48E NP_001310889.1
NM_006462.5 648 Intron NP_006453.1
NM_031229.3 648 Silent Mutation GAA,GAG E48E NP_112506.2
XM_005260645.1 648 Silent Mutation GAA,GAG E65E XP_005260702.1
XM_011529137.1 648 Silent Mutation GAA,GAG E65E XP_011527439.1
XM_011529138.1 648 Silent Mutation GAA,GAG E48E XP_011527440.1
XM_011529139.2 648 Silent Mutation GAA,GAG E65E XP_011527441.1
XM_011529140.1 648 Silent Mutation GAA,GAG E65E XP_011527442.1
XM_017027594.1 648 UTR 5 XP_016883083.1
XM_017027595.1 648 UTR 5 XP_016883084.1

View Full Product Details