Product Details

SNP ID

rs186287404

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:219968840 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGACCAAATAAGGTGTAGTACTTG[G/T]CAGGGTTCTTGCCACAGACACATTT

Phenotype

MIM: 138295 MIM: 611146

Polymorphism

G/T, Transversion 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	3031	Missense Mutation			NP_004437.2
XM_017000614.1	3031	Missense Mutation			XP_016856103.1

Gene

SLC30A10

Gene Name

solute carrier family 30 member 10

There are no transcripts associated with this gene.

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