Product Details

SNP ID

rs202233631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:70251264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATTCAGCACAGGCATGAGCGCCA[C/T]GGTGAGGCCGGCGGCGGCGCGCTCT

Phenotype

MIM: 601065 MIM: 606490

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AARS PubMed Links

Gene Details

Gene

AARS

Gene Name

alanyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

EXOSC6

Gene Name

exosome component 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_058219.2	667	Missense Mutation	ATG,GTG	M213V	NP_478126.1

Gene

LOC107984138

Gene Name

serine/threonine-protein kinase SMG1-like

There are no transcripts associated with this gene.

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