Product Details

SNP ID

rs200887429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:30598875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCAGTGGCTGAGCTCAAAGCCC[A/G]CAAGAGGGTTCTGGAAGCAAAGGTG

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	489	Missense Mutation	CAC,CGC	H47R	NP_001303701.1
NM_002047.3	489	Missense Mutation	CAC,CGC	H101R	NP_002038.2
XM_006715686.2	489	UTR 5			XP_006715749.1

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