Product Details

SNP ID

rs139830746

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17807841 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCGGCACCGGCGGCCCAATGCC[A/G]CCCTCATTCTGGCCATCGGCGCTTT

Phenotype

MIM: 605863 MIM: 146738

Polymorphism

A/G, 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	181	Missense Mutation	ACC,GCC	T12A	NP_055071.2
XM_011527626.2	181	Missense Mutation	ACC,GCC	T12A	XP_011525928.1

Gene

INSL3

Gene Name

insulin like 3

There are no transcripts associated with this gene.

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