Product Details

SNP ID
rs150724981
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:135911175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCATGAGGAGGGGCTCCAAAGC[A/G]GAAGGAATCAATGTAAGCCTTAATT
Phenotype
MIM: 603084
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DARS PubMed Links

Gene Details

Gene
DARS
Gene Name
aspartyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001293312.1 1565 Missense Mutation CGC,TGC R360C NP_001280241.1
NM_001349.3 1565 Missense Mutation CGC,TGC R460C NP_001340.2
XM_017003489.1 1565 Missense Mutation CGC,TGC R427C XP_016858978.1

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