Product Details

SNP ID
rs2529438
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:30595014 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGCTCTTAGCCCGACCCTCGCTCCT[C/G]CTCCGCCGGTCCCTCAGCGCGGCCT
Phenotype
MIM: 600287
Polymorphism
C/G, Transversion 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_001316772.1 280 UTR 5 NP_001303701.1
NM_002047.3 280 Silent Mutation CTC,CTG L31L NP_002038.2
XM_006715686.2 280 UTR 5 XP_006715749.1

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