Product Details

SNP ID

rs150827657

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:235448335 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTGAGAGAACGAATGGACTTTTC[C/T]TGTCTTTTGATAGGCTCCATGACAA

Phenotype

MIM: 610194 MIM: 604934

Polymorphism

C/T, Transition 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	3690	Intron			NP_001264084.1
NM_152490.4	3690	UTR 3			NP_689703.1
XM_006711749.3	3690	Intron			XP_006711812.1
XM_017000394.1	3690	UTR 3			XP_016855883.1
XM_017000395.1	3690	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	3690	Intron			NP_001072983.1
NM_001287801.1	3690	Intron			NP_001274730.1
NM_001287802.1	3690	Intron			NP_001274731.1
NM_003193.4	3690	Intron			NP_003184.1

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