Product Details

SNP ID
rs185805779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:10528925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGGTTGTGAATGATGGGCTCTT[A/G]GAAGCACTGTCTTTTTAGCGCGTCT
Phenotype
MIM: 600429
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCNT2 PubMed Links

Gene Details

Gene
GCNT2
Gene Name
glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001491.2 563 Intron NP_001482.1
NM_145649.4 563 Nonsense Mutation TAG,TGG *5W NP_663624.1
NM_145655.3 563 Intron NP_663630.2
XM_005248997.3 563 Intron XP_005249054.1
XM_005248999.2 563 Intron XP_005249056.1
XM_006715052.3 563 Nonsense Mutation TAG,TGG *5W XP_006715115.1
XM_011514466.2 563 Intron XP_011512768.1
XM_011514468.2 563 Nonsense Mutation TAG,TGG *5W XP_011512770.1
XM_017010732.1 563 Nonsense Mutation TAG,TGG *5W XP_016866221.1

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