Product Details

SNP ID

rs201653455

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42955224 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCACATGATCCTCTGCTCCACA[C/T]CTGAAAGAGAAAGGTCAGAGGAGAC

Phenotype

MIM: 613212

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AARSD1 PubMed Links

Gene Details

Gene

AARSD1

Gene Name

alanyl-tRNA synthetase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261434.1	1663	Silent Mutation			NP_001248363.1

Gene

PTGES3L-AARSD1

Gene Name

PTGES3L-AARSD1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136042.2	1663	Silent Mutation			NP_001129514.2
NM_025267.3	1663	Silent Mutation			NP_079543.1

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