Product Details

SNP ID
rs202045769
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:54269620 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGAGGAAGACGCCGAGGCCTGGG[C/G]CATGGAACTGGCGGACGTGGGGGCG
Phenotype
MIM: 605252
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
POLI PubMed Links

Gene Details

Gene
POLI
Gene Name
DNA polymerase iota
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007195.2 63 Missense Mutation GCC,GGC A25G NP_009126.2
XM_005258188.3 63 UTR 5 XP_005258245.1
XM_005258192.4 63 Missense Mutation GCC,GGC A25G XP_005258249.1
XM_006722378.2 63 Missense Mutation GCC,GGC A25G XP_006722441.1
XM_011525796.2 63 UTR 5 XP_011524098.1
XM_011525797.1 63 Missense Mutation GCC,GGC A25G XP_011524099.1

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