Product Details

SNP ID

rs201909336

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:460486 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCGCCGTGGTGTCTGTGGGGCTCT[A/G]GACTCTGTATCTGGAACTGGTGGCG

Phenotype

MIM: 612220

Polymorphism

A/G, Transition 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	110	Nonsense Mutation	TAG,TGG	*37W	NP_775864.3

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