Product Details

SNP ID
rs1122373
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:73877195 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
CGTCAATTGTCGAGGGATATGGAGG[A/G]AACAGGGTCCGGAAAAAGAAGTATC
Phenotype
MIM: 608016
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COA4 PubMed Links

Gene Details

Gene
COA4
Gene Name
cytochrome c oxidase assembly factor 4 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016565.2 Intron NP_057649.2
XM_017017883.1 Intron XP_016873372.1
XM_017017884.1 Intron XP_016873373.1
Gene
PAAF1
Gene Name
proteasomal ATPase associated factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267803.1 Intron NP_001254732.1
NM_001267804.1 Intron NP_001254733.1
NM_001267805.1 Intron NP_001254734.1
NM_001267806.1 Intron NP_001254735.1
NM_025155.2 Intron NP_079431.1
XM_005274308.2 Intron XP_005274365.2
XM_005274309.1 Intron XP_005274366.1
XM_017018357.1 Intron XP_016873846.1
XM_017018358.1 Intron XP_016873847.1
XM_017018359.1 Intron XP_016873848.1

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