Product Details

SNP ID
rs120074148
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:108135240 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCAAAGTCTTATGTGTGGACAT[C/G]AGGTAAGAAACACCGTCCTTCCCAT
Phenotype
MIM: 607809
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ACAT1 PubMed Links

Gene Details

Gene
ACAT1
Gene Name
acetyl-CoA acetyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000019.3 492 Missense Mutation CAG,GAG Q145E NP_000010.1
XM_006718835.3 492 Missense Mutation CAG,GAG Q55E XP_006718898.1
XM_017017681.1 492 Missense Mutation CAG,GAG Q55E XP_016873170.1
XM_017017682.1 492 Intron XP_016873171.1
XM_017017683.1 492 Intron XP_016873172.1

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