Product Details

SNP ID
rs149802408
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:106978556 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTCCTAATGTCAACTGAACATTT[A/T]TAGAGCTTTTCCACTGTTCTTGTAT
Phenotype
MIM: 616929
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MTERF2 PubMed Links

Gene Details

Gene
MTERF2
Gene Name
mitochondrial transcription termination factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033050.2 515 Nonsense Mutation TAA,TAT *53Y NP_001028222.1
NM_025198.4 515 Nonsense Mutation TAA,TAT *53Y NP_079474.2
XM_011538767.2 515 Nonsense Mutation TAA,TAT *53Y XP_011537069.1
XM_017019985.1 515 Nonsense Mutation TAA,TAT *53Y XP_016875474.1
XM_017019986.1 515 Nonsense Mutation TAA,TAT *53Y XP_016875475.1
XM_017019987.1 515 Nonsense Mutation TAA,TAT *53Y XP_016875476.1
Gene
TMEM263
Gene Name
transmembrane protein 263
There are no transcripts associated with this gene.

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