Product Details

SNP ID
rs140606727
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:235448399 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGATTGCTGTCACGTCTTCTCAAA[G/T]TTCCTGTGTCAGACCTTCTGTTGTC
Phenotype
MIM: 610194 MIM: 604934
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
B3GALNT2 PubMed Links

Gene Details

Gene
B3GALNT2
Gene Name
beta-1,3-N-acetylgalactosaminyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277155.2 1779 Intron NP_001264084.1
NM_152490.4 1779 UTR 3 NP_689703.1
XM_006711749.3 1779 Intron XP_006711812.1
XM_017000394.1 1779 UTR 3 XP_016855883.1
XM_017000395.1 1779 UTR 3 XP_016855884.1
Gene
TBCE
Gene Name
tubulin folding cofactor E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079515.2 1779 Missense Mutation GTT,TTT V484F NP_001072983.1
NM_001287801.1 1779 Missense Mutation GTT,TTT V535F NP_001274730.1
NM_001287802.1 1779 Missense Mutation GTT,TTT V371F NP_001274731.1
NM_003193.4 1779 Missense Mutation GTT,TTT V484F NP_003184.1

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