Product Details

SNP ID
rs140197340
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:44113953 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTCCCCACAGGGTTCCCGTTGT[C/T]CTCAATGAGGACCACGTTGTTGGAG
Phenotype
MIM: 611827
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MRPL14 PubMed Links

Gene Details

Gene
MRPL14
Gene Name
mitochondrial ribosomal protein L14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318767.1 405 Missense Mutation AAC,GAC N110D NP_001305696.1
NM_001318768.1 405 Missense Mutation AAC,GAC N110D NP_001305697.1
NM_001318769.1 405 Missense Mutation AAC,GAC N121D NP_001305698.1
NM_001318770.1 405 Missense Mutation AAC,GAC N163D NP_001305699.1
NM_001318771.1 405 Missense Mutation AAC,GAC N76D NP_001305700.1
NM_032111.3 405 Missense Mutation AAC,GAC N110D NP_115487.2

View Full Product Details