Product Details

SNP ID

rs3730669

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:54269633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGAGGCCTGGGCCATGGAACTGGC[A/G]GACGTGGGGGCGGCAGCCAGCTCGC

Phenotype

MIM: 605252

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

POLI PubMed Links

Additional Information

For this assay, SNP(s) [rs376396991] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	76	Silent Mutation	GCA,GCG	A29A	NP_009126.2
XM_005258188.3	76	UTR 5			XP_005258245.1
XM_005258192.4	76	Silent Mutation	GCA,GCG	A29A	XP_005258249.1
XM_006722378.2	76	Silent Mutation	GCA,GCG	A29A	XP_006722441.1
XM_011525796.2	76	UTR 5			XP_011524098.1
XM_011525797.1	76	Silent Mutation	GCA,GCG	A29A	XP_011524099.1

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