Product Details

SNP ID
rs12141433
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:244836499 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTTCCCAGGCATCTTGTACGTC[C/G]TTACATTTATCATATTGGAAGGTAA
Phenotype
MIM: 614698 MIM: 602869
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COX20 PubMed Links

Gene Details

Gene
COX20
Gene Name
COX20, cytochrome c oxidase assembly factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001312871.1 296 Intron NP_001299800.1
NM_001312872.1 296 Silent Mutation TCC,TCG S19S NP_001299801.1
NM_001312873.1 296 Intron NP_001299802.1
NM_001312874.1 296 Intron NP_001299803.1
NM_198076.5 296 Intron NP_932342.1
Gene
HNRNPU
Gene Name
heterogeneous nuclear ribonucleoprotein U
There are no transcripts associated with this gene.

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