Product Details

SNP ID

rs140345484

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:193180842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAACATATGGAATATGTGGACAGT[A/G]TGTTGCAACCCAGTTCATGCCCATT

Phenotype

MIM: 603018 MIM: 607393

Polymorphism

A/G, Transition 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	1436	Missense Mutation	CAC,TAC	H241Y	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	1436	Intron			NP_078805.3
XM_006711537.3	1436	Intron			XP_006711600.1

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