Product Details

SNP ID
rs137852645
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:30599996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATATTGTAGACCGAGCAAAAATGG[A/G]AGATACCCTGAAGAGGAGGTTTTTC
Phenotype
MIM: 600287
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GARS PubMed Links

Gene Details

Gene
GARS
Gene Name
glycyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316772.1 561 Missense Mutation GAA,GGA E71G NP_001303701.1
NM_002047.3 561 Missense Mutation GAA,GGA E125G NP_002038.2
XM_006715686.2 561 Missense Mutation GAA,GGA E2G XP_006715749.1

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