Product Details

SNP ID
rs117895496
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:146114174 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCATTCTCAGTCAGATGAATTT[C/T]CTTGCTCATGAGGTCCACATTGAAA
Phenotype
MIM: 151350
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LARS PubMed Links

Gene Details

Gene
LARS
Gene Name
leucyl-tRNA synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317964.1 3676 Missense Mutation AAA,GAA K1109E NP_001304893.1
NM_001317965.1 3676 Missense Mutation AAA,GAA K1101E NP_001304894.1
NM_016460.3 3676 Missense Mutation AAA,GAA K1128E NP_057544.2
NM_020117.10 3676 Missense Mutation AAA,GAA K1155E NP_064502.9
XM_011537656.2 3676 Missense Mutation AAA,GAA K1101E XP_011535958.1
Gene
PLAC8L1
Gene Name
PLAC8 like 1
There are no transcripts associated with this gene.

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