Product Details

SNP ID

rs142522478

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:193180503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTCATTGGGAGGGGGTACAGGAT[C/T]AATTCTCAACTTGGCAAGACAGATC

Phenotype

MIM: 603018 MIM: 607393

Polymorphism

C/T, 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	1775	Missense Mutation	AAT,GAT	N354D	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	1775	Intron			NP_078805.3
XM_006711537.3	1775	Intron			XP_006711600.1

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