Product Details

SNP ID: rs151318611
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:69339548 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACCGATGGGATAGTCGCCGCGGTC[A/G]CCATCTTCCCAGCAACAACGTCACT
Phenotype: MIM: 606979
Polymorphism: A/G, Transition 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	37	Missense Mutation	GCG,GTG	A2V	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	37	UTR 5			NP_001186363.1
NM_016101.4	37	UTR 5			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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