Product Details

SNP ID
rs138085133
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:26022729 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTTGTCCTGCTGGGAGGCTTCT[C/G]CCTTCTCCGCCTGGCATTGCCTCCC
Phenotype
MIM: 601738
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EXTL1 PubMed Links

Gene Details

Gene
EXTL1
Gene Name
exostosin like glycosyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004455.2 981 Missense Mutation TCC,TGC S28C NP_004446.2
XM_005245779.3 981 Missense Mutation TCC,TGC S28C XP_005245836.1
XM_017000650.1 981 Missense Mutation TCC,TGC S28C XP_016856139.1

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