Product Details

SNP ID: rs1044541
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:70366648 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATGGCCTCATTAACATAATTAATCC[A/G]TAGTGACATTCCCTGGATAATAAAT
Phenotype: MIM: 609411
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: COX16 PubMed Links

Gene Details

Gene: COX16
Gene Name: COX16, cytochrome c oxidase assembly homolog

There are no transcripts associated with this gene.

Gene: SYNJ2BP
Gene Name: synaptojanin 2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018373.2	6908	UTR 3			NP_060843.2

Gene: SYNJ2BP-COX16
Gene Name: SYNJ2BP-COX16 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202547.2	6908	Intron			NP_001189476.1
NM_001202548.2	6908	Intron			NP_001189477.1
NM_001202549.2	6908	Intron			NP_001189478.1

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