Product Details

SNP ID
rs12940307
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42952733 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGGAAATCTCTAGGCTAGAGACCAT[A/C]AGGAGTGGGAAGAGTAAGTAAAGCC
Phenotype
MIM: 613212
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
AARSD1 PubMed Links

Gene Details

Gene
AARSD1
Gene Name
alanyl-tRNA synthetase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001261434.1 Intron NP_001248363.1
Gene
PTGES3L-AARSD1
Gene Name
PTGES3L-AARSD1 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136042.2 Intron NP_001129514.2
NM_025267.3 Intron NP_079543.1

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