Product Details

SNP ID
rs200801688
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:27437202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTCTTAATCCACTGCTGAATCT[C/G]TTTAGTCTTTGTGTCCAAATCATGT
Phenotype
MIM: 600860
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
GTF3A PubMed Links

Gene Details

Gene
GTF3A
Gene Name
general transcription factor IIIA
There are no transcripts associated with this gene.

Gene
MTIF3
Gene Name
mitochondrial translational initiation factor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166261.1 1420 Intron NP_001159733.1
NM_001166262.1 1420 Intron NP_001159734.1
NM_001166263.1 1420 Missense Mutation CAG,GAG Q178E NP_001159735.1
NM_152912.4 1420 Intron NP_690876.3
XM_006719771.3 1420 Missense Mutation CAG,GAG Q178E XP_006719834.1
XM_006719772.3 1420 Missense Mutation CAG,GAG Q178E XP_006719835.1
XM_011534957.2 1420 Missense Mutation CAG,GAG Q178E XP_011533259.1
XM_011534958.2 1420 Missense Mutation CAG,GAG Q178E XP_011533260.1
XM_011534959.2 1420 Missense Mutation CAG,GAG Q178E XP_011533261.1
XM_011534960.2 1420 Missense Mutation CAG,GAG Q178E XP_011533262.1
XM_011534961.2 1420 Missense Mutation CAG,GAG Q178E XP_011533263.1
XM_011534962.2 1420 Missense Mutation CAG,GAG Q178E XP_011533264.1
XM_011534963.2 1420 Missense Mutation CAG,GAG Q178E XP_011533265.1
XM_017020417.1 1420 Intron XP_016875906.1

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