Product Details

SNP ID

rs200875791

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:69347877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTCATAGAAGACCCCAAAGTTGA[C/G]GTACACTTGCACAGAACCGAAGTGA

Phenotype

MIM: 606979 MIM: 602027

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

There are no transcripts associated with this gene.

Gene

TERF2

Gene Name

telomeric repeat binding factor 2

There are no transcripts associated with this gene.

Gene

TMED6

Gene Name

transmembrane p24 trafficking protein 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144676.3	456	Missense Mutation	CTC,GTC	L134V	NP_653277.2

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