Product Details

SNP ID
rs75040541
Assay Type
Functionally Tested
NCBI dbSNP Submissions
18
Location
Chr.1:119033045 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGTTTTTCAATTTCACGCTTAA[C/T]TGGGGCAAACTTCTCAATCACAGCA
Phenotype
MIM: 604733
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
WARS2 PubMed Links

Gene Details

Gene
WARS2
Gene Name
tryptophanyl tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015836.3 799 Missense Mutation ATT,GTT I317V NP_056651.1
NM_201263.2 799 UTR 3 NP_957715.1
XM_005270350.3 799 Missense Mutation ATT,GTT I299V XP_005270407.1
XM_011540494.2 799 Missense Mutation ATT,GTT I294V XP_011538796.1
XM_011540495.2 799 Missense Mutation ATT,GTT I231V XP_011538797.1
XM_017000038.1 799 Missense Mutation ATT,GTT I298V XP_016855527.1
XM_017000039.1 799 Missense Mutation ATT,GTT I294V XP_016855528.1
XM_017000040.1 799 Missense Mutation ATT,GTT I260V XP_016855529.1
XM_017000041.1 799 Missense Mutation ATT,GTT I204V XP_016855530.1
XM_017000042.1 799 UTR 3 XP_016855531.1

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