Product Details

SNP ID

rs112236180

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:75651012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGAGAAGATATGAATGAATATAT[C/T]AGTATGGTGGGAGTTGCTCTGAACC

Phenotype

MIM: 601421 MIM: 605061

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KARS PubMed Links

Gene Details

Gene

KARS

Gene Name

lysyl-tRNA synthetase

There are no transcripts associated with this gene.

Gene

TERF2IP

Gene Name

TERF2 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018975.3		Intron			NP_061848.2

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