Product Details

SNP ID

rs199545183

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:219968889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGCTCCAGGCTGCAGTTCACAGA[A/G]TGGTTTGAAGGGGATGCAAAGGCTT

Phenotype

MIM: 138295 MIM: 611146

Polymorphism

A/G, 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	2982	Missense Mutation	CTC,TTC	L1486F	NP_004437.2
XM_017000614.1	2982	Missense Mutation	CTC,TTC	L960F	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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