Product Details

SNP ID

rs35017327

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:73873308 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCGGGAGATCAGCTGGTCCAGC[A/G]GGTCCTCCTCCTCATCGTCTTTCTT

Phenotype

MIM: 608016 MIM: 611853

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	492	Missense Mutation			NP_057649.2
XM_017017883.1	492	Missense Mutation			XP_016873372.1
XM_017017884.1	492	Missense Mutation			XP_016873373.1

Gene

MRPL48

Gene Name

mitochondrial ribosomal protein L48

There are no transcripts associated with this gene.

Gene

PAAF1

Gene Name

proteasomal ATPase associated factor 1

There are no transcripts associated with this gene.

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