Product Details

SNP ID

rs2231192

Assay Type

Functionally Tested

NCBI dbSNP Submissions

18

Location

Chr.1:19312815 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGTGGTAGCCCCGAGCTGGGAC[A/G]CTCCTCCCTCCACAATCTCCCCAGG

Phenotype

MIM: 603418 MIM: 614760

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

AKR7A2 PubMed Links

Additional Information

For this assay, SNP(s) [rs139369121] 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	200	Intron			NP_001307908.1
NM_003689.3	200	Intron			NP_003680.2

Gene

PQLC2

Gene Name

PQ loop repeat containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040125.1	200	UTR 5			NP_001035214.1
NM_001040126.1	200	UTR 5			NP_001035215.1
NM_001287531.1	200	UTR 5			NP_001274460.1
NM_017765.2	200	UTR 5			NP_060235.2
XM_005245916.2	200	Intron			XP_005245973.1
XM_006710710.2	200	UTR 5			XP_006710773.1
XM_006710711.2	200	Intron			XP_006710774.1
XM_011541634.2	200	UTR 5			XP_011539936.1

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