Product Details

SNP ID

rs201231990

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:75029220 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCTTCACATATTCATAAGGCACC[C/T]GTCTAAGTTCATGATGGTAAGTGAA

Phenotype

MIM: 616782

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GCNT4 PubMed Links

Gene Details

Gene

GCNT4

Gene Name

glucosaminyl (N-acetyl) transferase 4, core 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016591.2	1680	Missense Mutation	CAG,CGG	Q273R	NP_057675.1

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