Product Details

SNP ID

rs200159869

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37472471 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGGTCCTCCTCCGGGGAGAAGG[A/G]GCCCTGTAGCTTAATGACGTTGAGT

Phenotype

MIM: 602577

Polymorphism

A/G, 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	1039	Missense Mutation	CCC,TCC	P277S	NP_001159815.1
NM_002405.3	1039	Missense Mutation	CCC,TCC	P291S	NP_002396.2

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