Product Details

SNP ID
rs200636493
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:42338647 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATGAGCAAACGGAAGGCGCCGC[A/G]GGAGACTCTCAACGGGGGAATCACC
Phenotype
MIM: 603258 MIM: 174760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
IKBKB PubMed Links

Gene Details

Gene
IKBKB
Gene Name
inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
There are no transcripts associated with this gene.

Gene
POLB
Gene Name
DNA polymerase beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002690.2 190 Missense Mutation CAG,CGG Q8R NP_002681.1
XM_005273535.3 190 Missense Mutation CAG,CGG Q8R XP_005273592.1
XM_005273536.3 190 Missense Mutation CAG,CGG Q8R XP_005273593.1
XM_005273537.3 190 Missense Mutation CAG,CGG Q8R XP_005273594.1
XM_005273538.2 190 UTR 5 XP_005273595.1
XM_005273539.2 190 UTR 5 XP_005273596.1
XM_005273540.4 190 UTR 5 XP_005273597.1
XM_006716353.2 190 UTR 5 XP_006716416.1
XM_017013583.1 190 UTR 5 XP_016869072.1
XM_017013584.1 190 UTR 5 XP_016869073.1

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