Product Details

SNP ID

rs200025018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:30599974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGCGTTACAGCCCAAAGATGAT[A/G]TTGTAGACCGAGCAAAAATGGAAGA

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	539	Missense Mutation	ATT,GTT	I64V	NP_001303701.1
NM_002047.3	539	Missense Mutation	ATT,GTT	I118V	NP_002038.2
XM_006715686.2	539	UTR 5			XP_006715749.1

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