Product Details

SNP ID

rs1982984

Assay Type

Functionally tested

NCBI dbSNP Submissions

38

Location

Chr.1:219972313 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

AGTGACCATCAGTATATCAGAGTTA[C/T]CTTATCATTGCACTATTGTGAGCCT

Phenotype

MIM: 138295

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPRS PubMed Links

Gene Details

Gene

EPRS

Gene Name

glutamyl-prolyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004446.2		Intron			NP_004437.2
XM_017000614.1		Intron			XP_016856103.1

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