Product Details

SNP ID

rs185829668

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:6466238 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGAACAGGTAGTGGGTGGTGATG[G/T]TCTCGGCCTCCCCAGTCTTGCTGAT

Phenotype

MIM: 609024

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

KDELR2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2230263] 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

KDELR2

Gene Name

KDEL endoplasmic reticulum protein retention receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100603.1	598	Intron			NP_001094073.1
NM_006854.3	598	Missense Mutation	AAC,ACC	N146T	NP_006845.1

View Full Product Details