Product Details

SNP ID

rs12140547

Assay Type

Functionally tested

NCBI dbSNP Submissions

58

Location

Chr.1:19317724 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCGCAACTTCTCCAGCTGCCCCA[A/G]TGGCTCCATCCAGTGGATATGGGAT

Phenotype

MIM: 603418 MIM: 614760

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AKR7A2 PubMed Links

Gene Details

Gene

AKR7A2

Gene Name

aldo-keto reductase family 7 member A2

There are no transcripts associated with this gene.

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	769	Missense Mutation	AAT,AGT	N16S	NP_001035214.1
NM_001040126.1	769	Intron			NP_001035215.1
NM_001287531.1	769	Intron			NP_001274460.1
NM_017765.2	769	Missense Mutation	AAT,AGT	N16S	NP_060235.2
XM_005245916.2	769	Missense Mutation	AAT,AGT	N16S	XP_005245973.1
XM_006710710.2	769	UTR 5			XP_006710773.1
XM_006710711.2	769	UTR 5			XP_006710774.1
XM_011541634.2	769	Missense Mutation	AAT,AGT	N16S	XP_011539936.1

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