Product Details

SNP ID

rs191255872

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:122208560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGAATGTGATTCCTGGCGGTTA[G/T]AGAGGCCTGATCTGCGCCTGCCAAA

Phenotype

MIM: 605864 MIM: 605219

Polymorphism

G/T, Transversion 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	934	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	934	Missense Mutation	ATA,CTA	I84L	NP_001265231.1
NM_001278303.1	934	Missense Mutation	ATA,CTA	I108L	NP_001265232.1
NM_001278304.1	934	Missense Mutation	ATA,CTA	I128L	NP_001265233.1
NM_001278342.1	934	Missense Mutation	ATA,CTA	I137L	NP_001265271.1
NM_019887.5	934	Missense Mutation	ATA,CTA	I181L	NP_063940.1
NM_138930.3	934	Missense Mutation	ATA,CTA	I128L	NP_620308.1

Gene

LRRC43

Gene Name

leucine rich repeat containing 43

There are no transcripts associated with this gene.

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