Product Details

SNP ID
rs199564292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:7324590 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGTCAGTAGTCCAGATCAAATC[C/T]GCGGAGAGGTAGATGAATGTCATTT
Phenotype
MIM: 614360 MIM: 606079
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ACSM4 PubMed Links

Gene Details

Gene
ACSM4
Gene Name
acyl-CoA synthetase medium-chain family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080454.1 1528 Missense Mutation CGC,TGC R510C NP_001073923.1
Gene
CD163L1
Gene Name
CD163 molecule like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297650.1 1528 Intron NP_001284579.1
NM_174941.5 1528 Intron NP_777601.2
XM_011520616.1 1528 Intron XP_011518918.1
XM_011520617.2 1528 Intron XP_011518919.1
XM_011520618.2 1528 Intron XP_011518920.1
XM_011520619.1 1528 Intron XP_011518921.1
XM_011520620.1 1528 Intron XP_011518922.1
XM_011520621.2 1528 Intron XP_011518923.1

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