Product Details

SNP ID
rs140817733
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:565968 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCACCAATGACCACGAGCAGGA[C/T]ACCGATGACCACCTGCAGGAGCAGA
Phenotype
MIM: 612220 MIM: 607297
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
B4GALNT3 PubMed Links

Gene Details

Gene
B4GALNT3
Gene Name
beta-1,4-N-acetyl-galactosaminyltransferase 3
There are no transcripts associated with this gene.

Gene
NINJ2
Gene Name
ninjurin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001294345.1 625 Missense Mutation ATC,GTC I75V NP_001281274.1
NM_001294346.1 625 Missense Mutation ATC,GTC I46V NP_001281275.1
NM_016533.5 625 Missense Mutation ATC,GTC I128V NP_057617.2

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