Product Details

SNP ID

rs9912503

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:50346170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGAGCGCGCGAGTGCAGAAGCT[G/T]GTGCGGCGCTACAAGCTGGCGATTG

Phenotype

MIM: 608125

Polymorphism

G/T, Transversion 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	139	Silent Mutation	CTG,CTT	L10L	NP_071450.2
XM_005257572.4	139	Intron			XP_005257629.1

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