Product Details

SNP ID: rs121434387
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:69331067 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGATGTTCACATGCCCTAGGTTACC[G/C]TACTTGGAGAGCTGAGTGGGAGGAA
Phenotype: MIM: 606979 MIM: 609982
Polymorphism: G/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	1682	Silent Mutation	TAC,TAG	Y537*	NP_115758.3

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

There are no transcripts associated with this gene.

Gene: PDF
Gene Name: peptide deformylase (mitochondrial)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022341.1	1682	Intron			NP_071736.1

Gene: VPS4A
Gene Name: vacuolar protein sorting 4 homolog A

There are no transcripts associated with this gene.

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