Product Details

SNP ID
rs117176165
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:159065941 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACTACAAACAAACCATTCACAATT[C/G]TTCCAAGGGGCTGAGTTTGAAGCGT
Phenotype
MIM: 604578
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
AIM2 PubMed Links

Gene Details

Gene
AIM2
Gene Name
absent in melanoma 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004833.1 1030 Missense Mutation ACA,AGA T262R NP_004824.1
XM_005245616.4 1030 Missense Mutation ACA,AGA T157R XP_005245673.1
XM_017002848.1 1030 Missense Mutation ACA,AGA T262R XP_016858337.1

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