Product Details

SNP ID: rs147716456
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:69340331 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGGATTACCTTGCACCTTATGCCA[A/C]GGTTTGTGGGGCGGTTTCCAATTCT
Phenotype: MIM: 606979
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: COG8 PubMed Links

Gene Details

Gene: COG8
Gene Name: component of oligomeric golgi complex 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032382.4	599	Intron			NP_115758.3

Gene: NIP7
Gene Name: NIP7, nucleolar pre-rRNA processing protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199434.1	599	Missense Mutation	AAG,ACG	K94T	NP_001186363.1
NM_016101.4	599	Missense Mutation	AAG,ACG	K94T	NP_057185.1

Gene: PDF
Gene Name: peptide deformylase (mitochondrial)

There are no transcripts associated with this gene.

Gene: TMED6
Gene Name: transmembrane p24 trafficking protein 6

There are no transcripts associated with this gene.

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