Product Details

SNP ID

rs3765310

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.6:24503369 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

GTTTACGGAGACATTATCCACACCC[C/T]GGCAAAGGACAGGCGGGCCCTGGTC

Phenotype

MIM: 610045 MIM: 602515

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALDH5A1 PubMed Links

Gene Details

Gene

ALDH5A1

Gene Name

aldehyde dehydrogenase 5 family member A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080.3	573	Missense Mutation	CCG,CTG	P182L	NP_001071.1
NM_170740.1	573	Missense Mutation	CCG,CTG	P182L	NP_733936.1

Gene

GPLD1

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

There are no transcripts associated with this gene.

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