Product Details

SNP ID
rs12726890
Assay Type
Functionally tested
NCBI dbSNP Submissions
36
Location
Chr.1:219970345 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TATGAAGGTGGAGACCCAAGAGACA[C/T]TGGCAGTAACAGCAACATGCTTCCA
Phenotype
MIM: 138295
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EPRS PubMed Links

Gene Details

Gene
EPRS
Gene Name
glutamyl-prolyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004446.2 Intron NP_004437.2
XM_017000614.1 Intron XP_016856103.1

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