Product Details

SNP ID
rs75706536
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:134918855 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCTTCAGCAAGAGCTCTCTTGA[C/T]GTAACTTCTGACCTGCGTGGGTAAA
Phenotype
MIM: 606467
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALDH8A1 PubMed Links

Gene Details

Gene
ALDH8A1
Gene Name
aldehyde dehydrogenase 8 family member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193480.1 943 Missense Mutation ATC,GTC I292V NP_001180409.1
NM_022568.3 943 Missense Mutation ATC,GTC I342V NP_072090.1
NM_170771.2 943 Missense Mutation ATC,GTC I288V NP_739577.1

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