Product Details

SNP ID
rs147439442
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:24503366 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTTTACGGAGACATTATCCACA[C/T]CCCGGCAAAGGACAGGCGGGCCCTG
Phenotype
MIM: 610045 MIM: 602515
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ALDH5A1 PubMed Links
Additional Information
For this assay, SNP(s) [rs2760118,rs3765310] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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_001080.3 570 Missense Mutation ACC,ATC T181I NP_001071.1
NM_170740.1 570 Missense Mutation ACC,ATC T181I NP_733936.1
Gene
GPLD1
Gene Name
glycosylphosphatidylinositol specific phospholipase D1
There are no transcripts associated with this gene.

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