Product Details

SNP ID
rs112095099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:56338426 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTATTTTTGATTGCCACCCAATAA[A/G]TCCAGACAATAAACATAATTATCTC
Phenotype
MIM: 614365
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AASDH PubMed Links

Gene Details

Gene
AASDH
Gene Name
aminoadipate-semialdehyde dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286668.1 3238 Silent Mutation GAC,GAT D991D NP_001273597.1
NM_001286669.1 3238 Silent Mutation GAC,GAT D938D NP_001273598.1
NM_001286670.1 3238 Silent Mutation GAC,GAT D606D NP_001273599.1
NM_001286671.1 3238 UTR 3 NP_001273600.1
NM_001286672.1 3238 Intron NP_001273601.1
NM_001323890.1 3238 Silent Mutation GAC,GAT D1130D NP_001310819.1
NM_001323892.1 3238 UTR 3 NP_001310821.1
NM_001323893.1 3238 UTR 3 NP_001310822.1
NM_001323899.1 3238 Silent Mutation GAC,GAT D714D NP_001310828.1
NM_181806.3 3238 Silent Mutation GAC,GAT D1091D NP_861522.2
XM_017007740.1 3238 Silent Mutation GAC,GAT D1047D XP_016863229.1
XM_017007741.1 3238 Silent Mutation GAC,GAT D938D XP_016863230.1
XM_017007742.1 3238 Silent Mutation GAC,GAT D938D XP_016863231.1
XM_017007743.1 3238 UTR 3 XP_016863232.1
XM_017007744.1 3238 Silent Mutation GAC,GAT D669D XP_016863233.1
Gene
KIAA1211
Gene Name
KIAA1211
There are no transcripts associated with this gene.

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