Product Details

SNP ID
rs199687961
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:8441275 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCGCTTTGGGAGGATTTCTCCCA[A/C]AGTCTCGCCCGTGGCAATTCGGAGT
Phenotype
MIM: 603402 MIM: 614309
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ACOX3 PubMed Links

Gene Details

Gene
ACOX3
Gene Name
acyl-CoA oxidase 3, pristanoyl
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101667.1 500 Intron NP_001095137.1
NM_003501.2 500 Intron NP_003492.2
XM_005248011.4 500 Intron XP_005248068.1
XM_005248013.3 500 Intron XP_005248070.1
XM_011513565.2 500 Intron XP_011511867.1
XM_011513566.1 500 Intron XP_011511868.1
Gene
TRMT44
Gene Name
tRNA methyltransferase 44 homolog (S. cerevisiae)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152544.2 500 Missense Mutation CAA,CAC Q151H NP_689757.2
XM_005247950.3 500 UTR 5 XP_005248007.1
XM_011513406.2 500 Missense Mutation CAA,CAC Q151H XP_011511708.1
XM_011513407.2 500 Missense Mutation CAA,CAC Q151H XP_011511709.1
XM_011513408.1 500 UTR 5 XP_011511710.1
XM_011513409.2 500 UTR 5 XP_011511711.1
XM_011513410.2 500 Missense Mutation CAA,CAC Q151H XP_011511712.1
XM_017007811.1 500 Missense Mutation CAA,CAC Q151H XP_016863300.1

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