Product Details

SNP ID

rs200325850

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:159063653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTTGTCACTTAGGTCAAATAATA[C/T]GTTTTTCTTCTTTTCTGTTACCTAT

Phenotype

MIM: 604578 MIM: 147586

Polymorphism

C/T, Transition 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	1083	Missense Mutation	ATA,GTA	I280V	NP_004824.1
XM_005245616.4	1083	Missense Mutation	ATA,GTA	I175V	XP_005245673.1
XM_017002848.1	1083	Missense Mutation	ATA,GTA	I280V	XP_016858337.1

Gene

IFI16

Gene Name

interferon gamma inducible protein 16

There are no transcripts associated with this gene.

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