Product Details

SNP ID
rs2279065
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:82943836 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTATTCCAACCTGTGTAATAGGGG[C/T]CTCCTCCTCCTTGAACTGTCCCGAT
Phenotype
MIM: 615337 MIM: 604649
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
B3GNTL1 PubMed Links

Gene Details

Gene
B3GNTL1
Gene Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001009905.2 1338 UTR 3 NP_001009905.1
NM_001320742.1 1338 UTR 3 NP_001307671.1
NM_001320743.1 1338 UTR 3 NP_001307672.1
XM_006722272.3 1338 UTR 3 XP_006722335.1
XM_006722274.2 1338 Intron XP_006722337.2
XM_011523532.2 1338 UTR 3 XP_011521834.1
XM_011523535.1 1338 UTR 3 XP_011521837.1
XM_017024205.1 1338 UTR 3 XP_016879694.1
XM_017024206.1 1338 UTR 3 XP_016879695.1
XM_017024207.1 1338 Intron XP_016879696.1
Gene
LOC105371944
Gene Name
uncharacterized LOC105371944
There are no transcripts associated with this gene.

Gene
TBCD
Gene Name
tubulin folding cofactor D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005993.4 1338 Intron NP_005984.3
XM_005256396.4 1338 Intron XP_005256453.1
XM_005256399.4 1338 Intron XP_005256456.1
XM_005256404.4 1338 Intron XP_005256461.1
XM_006722290.2 1338 Intron XP_006722353.1
XM_006722291.3 1338 Intron XP_006722354.1
XM_006722292.2 1338 Intron XP_006722355.1
XM_011523589.1 1338 Intron XP_011521891.1
XM_011523590.1 1338 Intron XP_011521892.1
XM_011523591.1 1338 Intron XP_011521893.1
XM_011523593.1 1338 Intron XP_011521895.1
XM_011523594.1 1338 Intron XP_011521896.1
XM_011523595.2 1338 Intron XP_011521897.1
XM_011523597.2 1338 Intron XP_011521899.1
XM_011523598.1 1338 Intron XP_011521900.1
XM_011523599.2 1338 Intron XP_011521901.1
XM_011523600.2 1338 Intron XP_011521902.1
XM_017024987.1 1338 Intron XP_016880476.1
XM_017024988.1 1338 Intron XP_016880477.1
XM_017024989.1 1338 Intron XP_016880478.1
XM_017024990.1 1338 Intron XP_016880479.1

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