Product Details

SNP ID
rs117484375
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:38125864 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTCATTGATCTCGAAGATGTCCA[C/T]GTCACTCACTGTCAGCCCTGCAGAC
Phenotype
MIM: 604054 MIM: 604050
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACAA1 PubMed Links

Gene Details

Gene
ACAA1
Gene Name
acetyl-CoA acyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130410.1 1222 Missense Mutation ATG,GTG M246V NP_001123882.1
NM_001607.3 1222 Missense Mutation ATG,GTG M339V NP_001598.1
XM_006713122.1 1222 Missense Mutation ATG,GTG M279V XP_006713185.1
XM_006713123.2 1222 Missense Mutation ATG,GTG M187V XP_006713186.1
XM_011533650.2 1222 Missense Mutation ATG,GTG M194V XP_011531952.1
Gene
DLEC1
Gene Name
deleted in lung and esophageal cancer 1
There are no transcripts associated with this gene.

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