Product Details

SNP ID
rs144751496
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:75648020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAGCGTCGGCTGTCGACGCTCAT[C/T]CTGCACGGCGGCGGCACCGTGTGCC
Phenotype
MIM: 601421 MIM: 605061
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
KARS PubMed Links

Gene Details

Gene
KARS
Gene Name
lysyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130089.1 Intron NP_001123561.1
NM_005548.2 Intron NP_005539.1
XM_017023217.1 Intron XP_016878706.1
Gene
TERF2IP
Gene Name
TERF2 interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018975.3 Intron NP_061848.2

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