Product Details

SNP ID

rs138490501

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:98385021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGCCAGAATGCAGGGGCACGGGG[C/T]GGGCGAAGTAGAGCTGGTCCAGGGA

Phenotype

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

PYROXD2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2296441] 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

PYROXD2

Gene Name

pyridine nucleotide-disulphide oxidoreductase domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032709.2	1648	Missense Mutation	CAC,CGC	H534R	NP_116098.2
XM_011540293.2	1648	Missense Mutation	CAC,CGC	H568R	XP_011538595.1
XM_011540301.2	1648	Missense Mutation	CAC,CGC	H265R	XP_011538603.1
XM_017016835.1	1648	Missense Mutation	CAC,CGC	H534R	XP_016872324.1
XM_017016836.1	1648	Intron			XP_016872325.1
XM_017016837.1	1648	Intron			XP_016872326.1
XM_017016838.1	1648	Missense Mutation	CAC,CGC	H413R	XP_016872327.1
XM_017016839.1	1648	Missense Mutation	CAC,CGC	H413R	XP_016872328.1
XM_017016840.1	1648	Missense Mutation	CAC,CGC	H413R	XP_016872329.1
XM_017016841.1	1648	Missense Mutation	CAC,CGC	H413R	XP_016872330.1

View Full Product Details