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SNP ID

rs147678668

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:220151678 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCCATTCCTTCTTTTGTCTGGGT[G/T]TGGAGAAGCGCATGAGCCAGCCTTT

Phenotype

MIM: 612801 MIM: 609275

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IARS2 PubMed Links

Gene Details

Gene

IARS2

Gene Name

isoleucyl-tRNA synthetase 2, mitochondrial

There are no transcripts associated with this gene.

Gene

RAB3GAP2

Gene Name

RAB3 GTPase activating non-catalytic protein subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012414.3	4118	Missense Mutation	CAA,CAC	Q1318H	NP_036546.2

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