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SNP ID: rs626993
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:70251715 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCGCGGGCCCGACACGGCACACAG[C/G]ACCTTGGTGCCTCCCGCCTCCAGGT
Phenotype: MIM: 601065 MIM: 606490
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: AARS PubMed Links

Gene Details

Gene: AARS
Gene Name: alanyl-tRNA synthetase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001605.2	216	Intron			NP_001596.2

Gene: EXOSC6
Gene Name: exosome component 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_058219.2	216	Silent Mutation	GTC,GTG	V62V	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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