Product Details

SNP ID
rs139346720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:54271452 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTTTTATGCACAAGTAGAAATG[A/G]TCTCAAATCCAGAGCTAAAAGACAA
Phenotype
MIM: 605252
Polymorphism
A/G, Transition 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_007195.2 568 Missense Mutation ATC,GTC I70V NP_009126.2
XM_005258188.3 568 Missense Mutation ATC,GTC I2V XP_005258245.1
XM_005258192.4 568 Missense Mutation ATC,GTC I70V XP_005258249.1
XM_006722378.2 568 Missense Mutation ATC,GTC I70V XP_006722441.1
XM_011525796.2 568 Missense Mutation ATC,GTC I2V XP_011524098.1
XM_011525797.1 568 Missense Mutation ATC,GTC I70V XP_011524099.1

View Full Product Details