Product Details

SNP ID

rs111341601

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:220148787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAAGCATTAAGAAGCATGGTGCT[A/G]TATATCTCTTTATCTACATTTACCC

Phenotype

MIM: 612801 MIM: 609275

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IARS2 PubMed Links

Gene Details

Gene

IARS2

Gene Name

isoleucyl-tRNA synthetase 2, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018060.3	6810	Intron			NP_060530.3

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	6810	UTR 3			NP_036546.2

View Full Product Details