Product Details

SNP ID

rs139486423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:24503305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACATGGAGAAATTCTCTATTCC[A/G]CCTTTTTCCTAGAGTGGTTCTCTGA

Phenotype

MIM: 610045 MIM: 602515

Polymorphism

A/G, 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	509	Missense Mutation	ACC,GCC	T161A	NP_001071.1
NM_170740.1	509	Missense Mutation	ACC,GCC	T161A	NP_733936.1

Gene

GPLD1

Gene Name

glycosylphosphatidylinositol specific phospholipase D1

There are no transcripts associated with this gene.

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