Product Details

SNP ID

rs147455263

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:75029074 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTAGACCAGGCAAAAAAGTCTT[C/G]AACGATGGAGTTGTTGAAAATATAT

Phenotype

MIM: 616782

Polymorphism

C/G, Transversion 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	1826	Missense Mutation	CAA,GAA	Q322E	NP_057675.1

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