Product Details

SNP ID
rs140785600
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:69260451 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTCGGAGCAGCTCCGCGAGGACC[G/T]CACCATCCCGCTCATTGTGAGTACG
Phenotype
MIM: 615132
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GALNT16 PubMed Links

Gene Details

Gene
GALNT16
Gene Name
polypeptide N-acetylgalactosaminyltransferase 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168368.1 300 Missense Mutation CGC,CTC R54L NP_001161840.1
NM_020692.2 300 Missense Mutation CGC,CTC R54L NP_065743.2
XM_011537005.1 300 Missense Mutation CGC,CTC R54L XP_011535307.1
XM_011537006.2 300 Missense Mutation CGC,CTC R54L XP_011535308.1
XM_011537007.2 300 Missense Mutation CGC,CTC R54L XP_011535309.1
XM_017021498.1 300 Missense Mutation CGC,CTC R54L XP_016876987.1
Gene
LOC105370550
Gene Name
uncharacterized LOC105370550
There are no transcripts associated with this gene.

View Full Product Details