Product Details

SNP ID
rs200398000
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:24495009 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTTGCCCGGGCCATGGCGACCTGC[A/G]TTTGGCTGCGGAGCTGTGGGGCCCG
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 41 Missense Mutation ATT,GTT I5V NP_001071.1
NM_170740.1 41 Missense Mutation ATT,GTT I5V NP_733936.1
Gene
GPLD1
Gene Name
glycosylphosphatidylinositol specific phospholipase D1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001503.3 41 Intron NP_001494.2
XM_011514509.2 41 Missense Mutation ACG,ATG T1M XP_011512811.1
XM_017010753.1 41 Missense Mutation ACG,ATG T1M XP_016866242.1
XM_017010754.1 41 Intron XP_016866243.1

View Full Product Details