Product Details

SNP ID
rs150431280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:125065661 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGGGAGCCTGACAGTAAGAAGA[A/G]CACGCAGATGGACCGCTTCCGGGCG
Phenotype
MIM: 614364
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AACS PubMed Links

Gene Details

Gene
AACS
Gene Name
acetoacetyl-CoA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319839.1 295 Missense Mutation AAC,AGC N26S NP_001306768.1
NM_001319840.1 295 Missense Mutation AAC,AGC N26S NP_001306769.1
NM_023928.4 295 Missense Mutation AAC,AGC N26S NP_076417.2
XM_011538692.2 295 Intron XP_011536994.1

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