Product Details

SNP ID
rs200262445
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:438761 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGATCTTCAGGCCGCAGAAGTCCC[C/T]GAAACCGCTGCCGCAGCACCATATC
Phenotype
MIM: 610924 MIM: 611663
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RBCK1 PubMed Links

Gene Details

Gene
RBCK1
Gene Name
RANBP2-type and C3HC4-type zinc finger containing 1
There are no transcripts associated with this gene.

Gene
TBC1D20
Gene Name
TBC1 domain family member 20
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144628.3 956 Missense Mutation CAG,CGG Q346R NP_653229.1
XM_005260661.1 956 Missense Mutation CAG,CGG Q346R XP_005260718.1
XM_006723540.3 956 Missense Mutation CAG,CGG Q284R XP_006723603.1
XM_017027645.1 956 Missense Mutation CAG,CGG Q284R XP_016883134.1

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