Product Details

SNP ID

rs60120345

Assay Type

DME

NCBI dbSNP Submissions

4

Location

Chr.1:112917366 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

TCCAACATAGGTAGTGGATAAAGGT[G/T]CTAGCATATGACACACTCCATTTGC

Phenotype

MIM: 600682

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

AKR7A2P1 PubMed Links

Gene Details

Gene

AKR7A2P1

Gene Name

aldo-keto reductase family 7 member A2 pseudogene 1

There are no transcripts associated with this gene.

Gene

SLC16A1

Gene Name

solute carrier family 16 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166496.1	1403	Missense Mutation	GAA,GCA	E347A	NP_001159968.1
NM_003051.3	1403	Missense Mutation	GAA,GCA	E347A	NP_003042.3
XM_011542026.2	1403	Intron			XP_011540328.1
XM_011542027.2	1403	Intron			XP_011540329.1

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