Product Details

SNP ID: rs149387774
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:122208555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCACCAGCTGAATGTGATTCCTGGC[A/G]GTTATAGAGGCCTGATCTGCGCCTG
Phenotype: MIM: 605864 MIM: 605219
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: B3GNT4 PubMed Links

Gene Details

Gene: B3GNT4
Gene Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011538732.1	939	Intron			XP_011537034.1

Gene: DIABLO
Gene Name: diablo IAP-binding mitochondrial protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278302.1	939	Silent Mutation	ACC,ACT	T85T	NP_001265231.1
NM_001278303.1	939	Silent Mutation	ACC,ACT	T109T	NP_001265232.1
NM_001278304.1	939	Silent Mutation	ACC,ACT	T129T	NP_001265233.1
NM_001278342.1	939	Silent Mutation	ACC,ACT	T138T	NP_001265271.1
NM_019887.5	939	Silent Mutation	ACC,ACT	T182T	NP_063940.1
NM_138930.3	939	Silent Mutation	ACC,ACT	T129T	NP_620308.1

Gene: LRRC43
Gene Name: leucine rich repeat containing 43

There are no transcripts associated with this gene.

View Full Product Details