Product Details

SNP ID

rs182629969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:57602467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGCCTCCCACAATCTCACCAACA[C/T]TGGGCATCAACACGTCGACCTTTAA

Phenotype

MIM: 108410

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NARS PubMed Links

Gene Details

Gene

NARS

Gene Name

asparaginyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004539.3	1631	Missense Mutation	AAT,AGT	N468S	NP_004530.1
XM_005266700.1	1631	Missense Mutation	AAT,AGT	N467S	XP_005266757.1

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