Product Details

SNP ID
rs76611863
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:32780173 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGCACCACTACCAGCCTGTCCT[G/T]CAGTTCCTCCTTGGGCACGAACTGT
Phenotype
MIM: 603623
Polymorphism
G/T, Transversion 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 1033 Missense Mutation AAG,CAG K416Q NP_003671.1
XM_011542347.1 1033 Missense Mutation AAG,CAG K206Q XP_011540649.1
XM_011542348.1 1033 Missense Mutation AAG,CAG K206Q XP_011540650.1
XM_017002651.1 1033 Missense Mutation AAG,CAG K206Q XP_016858140.1

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