Product Details

SNP ID
rs200084577
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:6015193 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTCTTGAGTCCCGCCAAGATGA[C/T]ATTTTAAAACGTCTGTATGAGTTGA
Phenotype
MIM: 600859 MIM: 613635 MIM: 600259
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AIMP2 PubMed Links

Gene Details

Gene
AIMP2
Gene Name
aminoacyl tRNA synthetase complex interacting multifunctional protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001326606.1 176 Silent Mutation GAC,GAT D21D NP_001313535.1
NM_001326607.1 176 Intron NP_001313536.1
NM_001326609.1 176 UTR 5 NP_001313538.1
NM_001326611.1 176 UTR 5 NP_001313540.1
NM_006303.3 176 Silent Mutation GAC,GAT D61D NP_006294.2
XM_005249847.3 176 Silent Mutation GAC,GAT D54D XP_005249904.1
XM_005249848.2 176 Silent Mutation GAC,GAT D21D XP_005249905.1
XM_005249850.3 176 UTR 5 XP_005249907.1
XM_006715772.2 176 Silent Mutation GAC,GAT D17D XP_006715835.1
XM_011515519.1 176 Silent Mutation GAC,GAT D32D XP_011513821.1
Gene
EIF2AK1
Gene Name
eukaryotic translation initiation factor 2 alpha kinase 1
There are no transcripts associated with this gene.

Gene
PMS2
Gene Name
PMS1 homolog 2, mismatch repair system component
There are no transcripts associated with this gene.

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