Product Details

SNP ID

rs2789790

Assay Type

Validated

NCBI dbSNP Submissions

9

Location

Chr.1:220151547 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AAATTTTCTTCATAACTGTTATTAA[C/G]CAGGCACTCAAGAAAACATCCAATG

Phenotype

MIM: 612801 MIM: 609275

Polymorphism

C/G, 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		Intron			NP_036546.2

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