Product Details

SNP ID

rs2169925

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43621495 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTTGGCAGGGAGCAAGTGGCAG[A/T]CAGCACCCCTCTCTCCCTAGCCTAT

Phenotype

MIM: 607434 MIM: 603968

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

GTPBP2 PubMed Links

Additional Information

For this assay, SNP(s) [rs113592918] 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

GTPBP2

Gene Name

GTP binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286216.1	2012	UTR 3			NP_001273145.1
NM_019096.4	2012	UTR 3			NP_061969.3
XM_017010976.1	2012	Intron			XP_016866465.1

Gene

MAD2L1BP

Gene Name

MAD2L1 binding protein

There are no transcripts associated with this gene.

Gene

POLH

Gene Name

DNA polymerase eta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291969.1	2012	Intron			NP_001278898.1
NM_001291970.1	2012	Intron			NP_001278899.1
NM_006502.2	2012	Intron			NP_006493.1
XM_005249186.3	2012	Intron			XP_005249243.1
XM_011514698.2	2012	Intron			XP_011513000.1

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