Product Details

SNP ID
rs199568440
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:19308468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCCCCCTCACCTCCTGGTGCAGC[C/T]GCTGGCAGGCATGCAGCGTCTCTTC
Phenotype
MIM: 603418 MIM: 614760
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
AKR7A2 PubMed Links
Additional Information
For this assay, SNP(s) [rs859208] 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
AKR7A2
Gene Name
aldo-keto reductase family 7 member A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320979.1 495 Missense Mutation CAG,CGG Q158R NP_001307908.1
NM_003689.3 495 Missense Mutation CAG,CGG Q158R NP_003680.2
Gene
PQLC2
Gene Name
PQ loop repeat containing 2
There are no transcripts associated with this gene.

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