Product Details

SNP ID

rs146693705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:73873287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGTGGGAGGCAGCACAGCCAGAG[C/T]GGGAGATCAGCTGGTCCAGCGGGTC

Phenotype

MIM: 608016 MIM: 611853

Polymorphism

C/T, 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	513	Missense Mutation	CAC,CGC	H31R	NP_057649.2
XM_017017883.1	513	Missense Mutation	CAC,CGC	H40R	XP_016873372.1
XM_017017884.1	513	Missense Mutation	CAC,CGC	H31R	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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