Product Details

SNP ID

rs121918209

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:173826692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTTTTTTTTTTTTTAAAGAATTC[A/G]GTAGCTTTGTTGTCCGGACCAACAC

Phenotype

MIM: 611503 MIM: 610956

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CENPL PubMed Links

Gene Details

Gene

CENPL

Gene Name

centromere protein L

There are no transcripts associated with this gene.

Gene

DARS2

Gene Name

aspartyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018122.4	704	Missense Mutation	AGT,GGT	S45G	NP_060592.2
XM_006711427.3	704	Missense Mutation	AGT,GGT	S45G	XP_006711490.1
XM_011509711.2	704	Missense Mutation	AGT,GGT	S45G	XP_011508013.1

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