Product Details

SNP ID
rs200375230
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:32776082 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGCGATGCACTCCTCAGAAATTT[C/T]GAAGTCAGCCTGGACAAGACAGATA
Phenotype
MIM: 603623
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KIAA1522 PubMed Links

Gene Details

Gene
KIAA1522
Gene Name
KIAA1522
There are no transcripts associated with this gene.

Gene
YARS
Gene Name
tyrosyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003680.3 1273 Missense Mutation AAA,GAA K496E NP_003671.1
XM_011542347.1 1273 Missense Mutation AAA,GAA K286E XP_011540649.1
XM_011542348.1 1273 Missense Mutation AAA,GAA K286E XP_011540650.1
XM_017002651.1 1273 Missense Mutation AAA,GAA K286E XP_016858140.1

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