Product Details

SNP ID
rs199593762
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:195069872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTCCAGCACATGGAAGAGCTTG[C/G]GGTGCTCCATGCCGATCATGGTGAA
Phenotype
MIM: 614552
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
XXYLT1 PubMed Links

Gene Details

Gene
XXYLT1
Gene Name
xyloside xylosyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308069.1 1133 Missense Mutation CCC,CGC P196R NP_001294998.1
NM_152531.4 1133 Missense Mutation CCC,CGC P342R NP_689744.3
XM_005269286.4 1133 Missense Mutation CCC,CGC P155R XP_005269343.1
XM_011512448.2 1133 Missense Mutation CCC,CGC P155R XP_011510750.1
XM_017005749.1 1133 Intron XP_016861238.1
XM_017005750.1 1133 Missense Mutation CCC,CGC P139R XP_016861239.1

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