Product Details

SNP ID
rs185572013
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:44301225 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGAGTAGGAGCACAGACGTGCT[A/G]GGGGCCTGCTCACACAGCTGCCGTA
Phenotype
MIM: 612035 MIM: 186975
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AARS2 PubMed Links

Gene Details

Gene
AARS2
Gene Name
alanyl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020745.3 2309 Silent Mutation CCC,CCT P908P NP_065796.1
XM_005249245.3 2309 Silent Mutation CCC,CCT P811P XP_005249302.1
XM_011514764.2 2309 Silent Mutation CCC,CCT P908P XP_011513066.1
XM_017011112.1 2309 Silent Mutation CCC,CCT P478P XP_016866601.1
Gene
TCTE1
Gene Name
t-complex-associated-testis-expressed 1
There are no transcripts associated with this gene.

View Full Product Details