Product Details

SNP ID

rs1738023

Assay Type

Functionally tested

NCBI dbSNP Submissions

90

Location

Chr.1:19284747 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

AAGCGGCCCACGGGCTGTTTCCCAT[T/C]CTTGTCCTCATACTTGTACTTGCCG

Phenotype

MIM: 608477

Polymorphism

T/C, 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	454	Missense Mutation	AAT,GAT	N215D	NP_036199.2
XM_011541046.2	454	Missense Mutation	AAT,GAT	N215D	XP_011539348.1
XM_017000714.1	454	Missense Mutation	AAT,GAT	N144D	XP_016856203.1

Gene

LOC100506730

Gene Name

uncharacterized LOC100506730

There are no transcripts associated with this gene.

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