Product Details

SNP ID
rs146534001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49458564 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTAAAGCCTGAACACAGAAATTCA[G/T]TGCCTTGCCAGGATCCCATCACAGG
Phenotype
MIM: 613358 MIM: 611480
Polymorphism
G/T, 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_001145396.1 103 Missense Mutation GTG,TTG V57L NP_001138868.1
NM_153329.3 103 Missense Mutation GTG,TTG V57L NP_699160.2
XM_011526441.1 103 Missense Mutation GTG,TTG V28L XP_011524743.1
XM_011526442.1 103 Missense Mutation GTG,TTG V28L XP_011524744.1
Gene
PIH1D1
Gene Name
PIH1 domain containing 1
There are no transcripts associated with this gene.

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