Product Details

SNP ID
rs201340875
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:19286313 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGTGACGTCTCCAGCTGGAACC[A/G]GAGACTGTCAGGCTTCAGGGAGTTC
Phenotype
MIM: 608477
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AKR7A3 PubMed Links

Gene Details

Gene
AKR7A3
Gene Name
aldo-keto reductase family 7 member A3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012067.2 85 Missense Mutation CGG,TGG R92W NP_036199.2
XM_011541046.2 85 Missense Mutation CGG,TGG R92W XP_011539348.1
XM_017000714.1 85 Missense Mutation CGG,TGG R21W XP_016856203.1
Gene
LOC100506730
Gene Name
uncharacterized LOC100506730
There are no transcripts associated with this gene.

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