Product Details

SNP ID
rs191454025
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:100874011 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATCATAATGTTGGAGTATCTTAA[C/G]GGCATGCTATCATAGATATTAACAA
Phenotype
MIM: 602411
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EXTL2 PubMed Links

Gene Details

Gene
EXTL2
Gene Name
exostosin like glycosyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001033025.2 1851 Silent Mutation CCC,CCG P308P NP_001028197.1
NM_001261440.1 1851 Silent Mutation CCC,CCG P307P NP_001248369.1
NM_001261441.1 1851 Silent Mutation CCC,CCG P316P NP_001248370.1
NM_001261442.1 1851 UTR 3 NP_001248371.1
NM_001439.3 1851 Silent Mutation CCC,CCG P308P NP_001430.1
XM_005270621.1 1851 Silent Mutation CCC,CCG P308P XP_005270678.1
XM_011540994.2 1851 Silent Mutation CCC,CCG P316P XP_011539296.1
XM_011540995.2 1851 Silent Mutation CCC,CCG P316P XP_011539297.1
XM_011540996.2 1851 Silent Mutation CCC,CCG P315P XP_011539298.1
XM_017000651.1 1851 Silent Mutation CCC,CCG P307P XP_016856140.1

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