Product Details

SNP ID
rs112300736
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:135912545 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTACAGCCAATGGATATTTATCAA[G/T]AATATAAAAATCTGTATCATACTAT
Phenotype
MIM: 603084
Polymorphism
G/T, Transversion 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 1358 Missense Mutation ATT,CTT I291L NP_001280241.1
NM_001349.3 1358 Missense Mutation ATT,CTT I391L NP_001340.2
XM_017003489.1 1358 Missense Mutation ATT,CTT I358L XP_016858978.1

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