Product Details

SNP ID

rs193248551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73196904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCTGTCATCATTTTTCTAGGTCA[A/G]CTATTCTGCATGAAAGCAAGATGTT

Phenotype

MIM: 606973

Polymorphism

A/G, Transition 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	601	Missense Mutation	ACT,GCT	T189A	NP_061184.1

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