Product Details

SNP ID

rs200753314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37469997 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCAGCTGGGGACACCAGGGTGTA[C/T]CTGGATAGAGCAGACAATGGAGGGA

Phenotype

MIM: 602577

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MFNG PubMed Links

Gene Details

Gene

MFNG

Gene Name

MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166343.1	1100	Missense Mutation	GAT,GGT	D297G	NP_001159815.1
NM_002405.3	1100	Missense Mutation	GAT,GGT	D311G	NP_002396.2

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