Product Details

SNP ID

rs146066919

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73196592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAATTCCGGAGAAGATCTGGAGCT[C/T]GATGGAAGCCTCTCAGTGTCTCCAC

Phenotype

MIM: 606973

Polymorphism

C/T, 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	437	Missense Mutation	TCG,TTG	S134L	NP_061184.1

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