Product Details

SNP ID

rs1670543

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:73879265 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACTTACTGAAGTCCAAAACCAAGCT[A/G]AGTACATTTGTTGTCAAGTGAGTTC

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

There are no transcripts associated with this gene.

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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