Product Details

SNP ID

rs79772073

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:19306058 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTACATCCACCGGAGGGCAGCC[A/G]AGGTCACACTGGGGGCGCTGGCGCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320979.1	795	Missense Mutation	TCG,TTG	S258L	NP_001307908.1
NM_003689.3	795	Missense Mutation	TCG,TTG	S293L	NP_003680.2

Gene

PQLC2

Gene Name

PQ loop repeat containing 2

There are no transcripts associated with this gene.

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