Product Details

SNP ID
rs149168717
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:120446690 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGATCACGGCTGCGGTGATCGAG[C/T]ACCTGGAGCGTCTAGCGCTTGTGGA
Phenotype
MIM: 602072 MIM: 614943
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COX6A1 PubMed Links

Gene Details

Gene
COX6A1
Gene Name
cytochrome c oxidase subunit 6A1
There are no transcripts associated with this gene.

Gene
GATC
Gene Name
glutamyl-tRNA amidotransferase subunit C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_176818.2 158 Missense Mutation CAC,TAC H39Y NP_789788.1
Gene
TRIAP1
Gene Name
TP53 regulated inhibitor of apoptosis 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016399.2 158 Intron NP_057483.1

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