Product Details

SNP ID
rs143130305
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:19738397 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGCCTCACCAGGCAAGAGCGGC[A/G]GTGAGAGAAAGTCTCGAAGCTCTTC
Phenotype
MIM: 100660
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ALDH3A1 PubMed Links

Gene Details

Gene
ALDH3A1
Gene Name
aldehyde dehydrogenase 3 family member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000691.4 1217 Missense Mutation CGC,TGC R425C NP_000682.3
NM_001135167.1 1217 Missense Mutation CGC,TGC R425C NP_001128639.1
NM_001135168.1 1217 Missense Mutation CGC,TGC R425C NP_001128640.1
XM_005256522.1 1217 Missense Mutation CGC,TGC R542C XP_005256579.1
XM_005256523.2 1217 Missense Mutation CGC,TGC R542C XP_005256580.1
XM_005256524.3 1217 Missense Mutation CGC,TGC R542C XP_005256581.1
XM_011523730.1 1217 Missense Mutation CGC,TGC R352C XP_011522032.1
XM_011523731.1 1217 Missense Mutation CGC,TGC R352C XP_011522033.1

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