Product Details

SNP ID
rs139563429
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:122270946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCCACCCTACCTTTCGCAATTAT[C/T]TTGCAGCCTCTATCAGACCCGTTTC
Phenotype
MIM: 604602
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MRRF PubMed Links

Gene Details

Gene
MRRF
Gene Name
mitochondrial ribosome recycling factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173512.1 419 Missense Mutation CTT,TTT L19F NP_001166983.1
NM_138777.3 419 Missense Mutation CTT,TTT L19F NP_620132.1
NM_199177.2 419 Intron NP_954646.1
XM_005252302.3 419 Missense Mutation CTT,TTT L40F XP_005252359.1
XM_011519183.2 419 Missense Mutation CTT,TTT L40F XP_011517485.1
XM_011519184.2 419 Missense Mutation CTT,TTT L19F XP_011517486.1
XM_011519185.2 419 Missense Mutation CTT,TTT L40F XP_011517487.1
XM_011519186.1 419 Missense Mutation CTT,TTT L19F XP_011517488.1
XM_011519187.2 419 Intron XP_011517489.1
XM_017015286.1 419 Missense Mutation CTT,TTT L40F XP_016870775.1
XM_017015287.1 419 Missense Mutation CTT,TTT L19F XP_016870776.1
Gene
RBM18
Gene Name
RNA binding motif protein 18
There are no transcripts associated with this gene.

View Full Product Details