Product Details

SNP ID

rs11609193

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:460520 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTGGAACTGGTGGCGTCGGCCCA[C/G]GTCGGCGGGAACCCCCTGAACCGGA

Phenotype

MIM: 612220

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

B4GALNT3 PubMed Links

Gene Details

Gene

B4GALNT3

Gene Name

beta-1,4-N-acetyl-galactosaminyltransferase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173593.3	144	Missense Mutation	CAC,CAG	H48Q	NP_775864.3

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