Product Details

SNP ID

rs76759023

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73193320 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGTGGACGCCGTGAAGGCCACCG[A/C]CCAGTACTGCGCCCGCCTCCGCCAG

Phenotype

MIM: 606973

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COG1 PubMed Links

Gene Details

Gene

COG1

Gene Name

component of oligomeric golgi complex 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018714.2	287	Missense Mutation	GAC,GCC	D84A	NP_061184.1

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