Product Details

SNP ID

rs3218799

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49643647 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATTTTCTTCAGATGATCTTTAA[G/A]AATCTCAAAAGCCTTGAAGTTTGCT

Phenotype

MIM: 612517 MIM: 602670

Polymorphism

G/A, Transition Substitution

Allele Nomenclature

Literature Links

DNAAF2 PubMed Links

Additional Information

For this assay, SNP(s) [rs3218801] are located under a primer 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

DNAAF2

Gene Name

dynein axonemal assembly factor 2

There are no transcripts associated with this gene.

Gene

POLE2

Gene Name

DNA polymerase epsilon 2, accessory subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001197330.1	1766	UTR 3			NP_001184259.1
NM_001197331.1	1766	Intron			NP_001184260.1
NM_002692.3	1766	UTR 3			NP_002683.2
XM_011536842.2	1766	Intron			XP_011535144.1
XM_011536843.2	1766	Intron			XP_011535145.1
XM_011536844.1	1766	Intron			XP_011535146.1
XM_017021374.1	1766	Intron			XP_016876863.1
XM_017021375.1	1766	UTR 3			XP_016876864.1

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