Product Details

SNP ID

rs146525990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69341274 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGTCGAATCACTGAAAATACTT[C/G]TCAGTACCAGGGCGTGGTGGTGTAC

Phenotype

MIM: 606979

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COG8 PubMed Links

Gene Details

Gene

COG8

Gene Name

component of oligomeric golgi complex 8

There are no transcripts associated with this gene.

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	695	Intron			NP_001186363.1
NM_016101.4	695	Missense Mutation	TCT,TGT	S126C	NP_057185.1

Gene

TMED6

Gene Name

transmembrane p24 trafficking protein 6

There are no transcripts associated with this gene.

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