Product Details

SNP ID

rs140309148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:37470024 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGATAGAGCAGACAATGGAGGGAG[C/T]GAAATCTGCAGAGAGACCAGAAAAG

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	1073	Missense Mutation	CAC,CGC	H288R	NP_001159815.1
NM_002405.3	1073	Missense Mutation	CAC,CGC	H302R	NP_002396.2

View Full Product Details