Product Details

SNP ID
rs140045230
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:78443671 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTCTGACCAGTACCTGGCTAAGC[A/G]CTCCTCTAAGAAATGGTATCGTTCT
Phenotype
MIM: 612803
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NARS2 PubMed Links

Gene Details

Gene
NARS2
Gene Name
asparaginyl-tRNA synthetase 2, mitochondrial (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243251.1 1621 Missense Mutation CGC,TGC R191C NP_001230180.1
NM_024678.5 1621 Missense Mutation CGC,TGC R418C NP_078954.4
XM_011545253.1 1621 Missense Mutation CGC,TGC R418C XP_011543555.1
XM_017018302.1 1621 Intron XP_016873791.1
XM_017018303.1 1621 Missense Mutation CGC,TGC R191C XP_016873792.1
XM_017018304.1 1621 Missense Mutation CGC,TGC R191C XP_016873793.1

View Full Product Details