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SNP ID: rs2233446
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:85799708 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGCGGCCTTGCTCTCTTCCGGTCGC[G/T]GGACACCGGGTGTAGAGGGCGGTCG
Phenotype: MIM: 123864 MIM: 604886
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: COX4I1 PubMed Links

Gene Details

Gene: COX4I1
Gene Name: cytochrome c oxidase subunit 4I1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318786.1	37	UTR 5			NP_001305715.1
NM_001318788.1	37	UTR 5			NP_001305717.1
NM_001318794.1	37	UTR 5			NP_001305723.1
NM_001318797.1	37	UTR 5			NP_001305726.1
NM_001318802.1	37	UTR 5			NP_001305731.1
NM_001861.4	37	UTR 5			NP_001852.1

Gene: EMC8
Gene Name: ER membrane protein complex subunit 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142288.1	37	Intron			NP_001135760.1
NM_006067.4	37	Intron			NP_006058.1
XM_011522813.2	37	UTR 5			XP_011521115.1
XM_017022867.1	37	Intron			XP_016878356.1

Gene: LOC101928557
Gene Name: uncharacterized LOC101928557

There are no transcripts associated with this gene.

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