Product Details

SNP ID
rs143687204
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:140694205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATAGGAAACCCTGACTGAGAAGTA[C/T]GGAGAGGACTCTGGGCTCATGTATG
Phenotype
MIM: 142810 MIM: 600783
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HARS PubMed Links

Gene Details

Gene
HARS
Gene Name
histidyl-tRNA synthetase
There are no transcripts associated with this gene.

Gene
HARS2
Gene Name
histidyl-tRNA synthetase 2, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278731.1 472 Silent Mutation TAC,TAT Y83Y NP_001265660.1
NM_001278732.1 472 Intron NP_001265661.1
NM_012208.3 472 Silent Mutation TAC,TAT Y108Y NP_036340.1
XM_011537619.1 472 Silent Mutation TAC,TAT Y114Y XP_011535921.1
XM_011537620.1 472 Silent Mutation TAC,TAT Y114Y XP_011535922.1
XM_017009287.1 472 Silent Mutation TAC,TAT Y108Y XP_016864776.1
XM_017009288.1 472 Silent Mutation TAC,TAT Y38Y XP_016864777.1
XM_017009289.1 472 Silent Mutation TAC,TAT Y38Y XP_016864778.1
XM_017009290.1 472 UTR 5 XP_016864779.1
XM_017009291.1 472 UTR 5 XP_016864780.1
XM_017009292.1 472 UTR 5 XP_016864781.1
Gene
ZMAT2
Gene Name
zinc finger matrin-type 2
There are no transcripts associated with this gene.

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