Product Details

SNP ID

rs201002166

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50353784 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGTGCCCGTGGCCAAGGTGGTAC[A/G]GGCAGTAACCAGCCGGCAGAGAGCC

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	713	Missense Mutation	CAG,CGG	Q97R	NP_071450.2
XM_005257572.4	713	Missense Mutation	CAG,CGG	Q65R	XP_005257629.1

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