Product Details

SNP ID
rs185166083
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:244842242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGGAGTAGGAGGGTTTATCTTG[A/G]TGACTTTGGGATGCTGGTATGTTTG
Phenotype
MIM: 614698 MIM: 602869
Polymorphism
A/G, Transition 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_001312871.1 472 Missense Mutation ATG,GTG M69V NP_001299800.1
NM_001312872.1 472 Missense Mutation ATG,GTG M81V NP_001299801.1
NM_001312873.1 472 Missense Mutation ATG,GTG M24V NP_001299802.1
NM_001312874.1 472 UTR 3 NP_001299803.1
NM_198076.5 472 Missense Mutation ATG,GTG M69V NP_932342.1
Gene
HNRNPU
Gene Name
heterogeneous nuclear ribonucleoprotein U
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004501.3 472 Intron NP_004492.2
NM_031844.2 472 Intron NP_114032.2
XM_017001115.1 472 UTR 3 XP_016856604.1
XM_017001116.1 472 UTR 3 XP_016856605.1
XM_017001117.1 472 UTR 3 XP_016856606.1

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