Product Details

SNP ID
rs144943249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:49133063 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTTTTCCGTGGGAAAATTCCACG[C/T]GGAAGTGGCCTCTCGCGGCCGGGAA
Phenotype
MIM: 111730
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
B4GALNT2 PubMed Links

Gene Details

Gene
B4GALNT2
Gene Name
beta-1,4-N-acetyl-galactosaminyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159387.1 250 Intron NP_001152859.1
NM_001159388.1 250 Intron NP_001152860.1
NM_153446.2 250 Missense Mutation GCG,GTG A13V NP_703147.2
XM_011524314.2 250 Missense Mutation GCG,GTG A13V XP_011522616.1
XM_017024173.1 250 Intron XP_016879662.1

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