Product Details

SNP ID
rs144362005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49453356 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATGGCTGCGACGCGTGCAGGGCCC[A/C]GCGCCCGCGAGATCTTCACCTCGCT
Phenotype
MIM: 613358 MIM: 611480
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ALDH16A1 PubMed Links

Gene Details

Gene
ALDH16A1
Gene Name
aldehyde dehydrogenase 16 family member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145396.1 141 Missense Mutation AGC,CGC S9R NP_001138868.1
NM_153329.3 141 Missense Mutation AGC,CGC S9R NP_699160.2
XM_011526441.1 141 Intron XP_011524743.1
XM_011526442.1 141 Intron XP_011524744.1
Gene
PIH1D1
Gene Name
PIH1 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017916.2 141 Intron NP_060386.1

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