Product Details

SNP ID
rs80049945
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:126546369 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTTCCAGGCATCACTGCCAGAC[C/T]CCCTGCCACCACCAGTGTGCTTTTC
Phenotype
MIM: 107323
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ALDH7A1 PubMed Links

Gene Details

Gene
ALDH7A1
Gene Name
aldehyde dehydrogenase 7 family member A1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001182.4 1712 Missense Mutation NP_001173.2
NM_001201377.1 1712 Missense Mutation NP_001188306.1
NM_001202404.1 1712 Missense Mutation NP_001189333.2
XM_011543417.2 1712 Missense Mutation XP_011541719.1
XM_017009493.1 1712 Missense Mutation XP_016864982.1

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