Product Details

SNP ID

rs141625180

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:70481396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGATGGTGGCCATCTGGGAGAGC[C/T]GGGCAAACTTGTCTCGGATGGTCCA

Phenotype

MIM: 606976 MIM: 608675

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COG4 PubMed Links

Gene Details

Gene

COG4

Gene Name

component of oligomeric golgi complex 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195139.1	2369	Missense Mutation	CAG,CGG	Q712R	NP_001182068.1
NM_015386.2	2369	Missense Mutation	CAG,CGG	Q733R	NP_056201.2
XM_011522981.2	2369	Missense Mutation	CAG,CGG	Q591R	XP_011521283.1

Gene

FUK

Gene Name

fucokinase

There are no transcripts associated with this gene.

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