Product Details

SNP ID

rs202219563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23559514 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTCATGTATAAGGGACTCGTCCC[C/G]GAGGATAAAACATTGAGAGAAATAA

Phenotype

MIM: 612799

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EARS2 PubMed Links

Gene Details

Gene

EARS2

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

There are no transcripts associated with this gene.

Gene

UBFD1

Gene Name

ubiquitin family domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019116.2	610	Silent Mutation	CCC,CCG	P134P	NP_061989.2
XM_011545894.2	610	Silent Mutation	CCC,CCG	P134P	XP_011544196.1
XM_017023459.1	610	Silent Mutation	CCC,CCG	P134P	XP_016878948.1
XM_017023460.1	610	Silent Mutation	CCC,CCG	P134P	XP_016878949.1

View Full Product Details