Product Details

SNP ID

rs113835371

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50353660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCAGAGGAAGCCACGGCCACTG[A/G]ACCCTGGCGAGGGTTCCAAGGACAC

Phenotype

MIM: 608125

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

XYLT2 PubMed Links

Gene Details

Gene

XYLT2

Gene Name

xylosyltransferase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022167.3	589	Missense Mutation	AAC,GAC	N56D	NP_071450.2
XM_005257572.4	589	Missense Mutation	AAC,GAC	N24D	XP_005257629.1

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