Product Details

SNP ID

rs202205669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17807829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGATGAAGTATCTCCGGCACCGG[C/T]GGCCCAATGCCACCCTCATTCTGGC

Phenotype

MIM: 605863 MIM: 146738

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

B3GNT3 PubMed Links

Gene Details

Gene

B3GNT3

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014256.3	169	Missense Mutation	CGG,TGG	R8W	NP_055071.2
XM_011527626.2	169	Missense Mutation	CGG,TGG	R8W	XP_011525928.1

Gene

INSL3

Gene Name

insulin like 3

There are no transcripts associated with this gene.

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