Product Details

SNP ID

rs2234428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23557571 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGCCCCCTTCAGCTTGGGAAAGCG[A/G]AAGCGTGGCAGGGGCCGGACCTGGG

Phenotype

MIM: 612799

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EARS2 PubMed Links

Gene Details

Gene

EARS2

Gene Name

glutamyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083614.1	37	Intron			NP_001077083.1
NM_001308211.1	37	Intron			NP_001295140.1
XM_011545738.1	37	Intron			XP_011544040.1
XM_011545739.1	37	Intron			XP_011544041.1

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	37	UTR 5			NP_061989.2
XM_011545894.2	37	UTR 5			XP_011544196.1
XM_017023459.1	37	UTR 5			XP_016878948.1
XM_017023460.1	37	UTR 5			XP_016878949.1

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