Product Details

SNP ID

rs180706669

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:193180171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTCTTCAGAAATTAAAAAAATA[C/G]TTCTTGAATTTCTTTATGTGATGAG

Phenotype

MIM: 603018 MIM: 607393

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

B3GALT2 PubMed Links

Gene Details

Gene

B3GALT2

Gene Name

beta-1,3-galactosyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003783.3	2107	UTR 3			NP_003774.1

Gene

CDC73

Gene Name

cell division cycle 73

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024529.4	2107	Intron			NP_078805.3
XM_006711537.3	2107	Intron			XP_006711600.1

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