Product Details

SNP ID
rs143625877
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:100874205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGATAAAATTCATGGCAATATCAT[C/T]ACAGTTTTGAGTATCATCTATCAAA
Phenotype
MIM: 602411
Polymorphism
C/T, Transition 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 1657 Missense Mutation AAT,GAT N244D NP_001028197.1
NM_001261440.1 1657 Missense Mutation AAT,GAT N243D NP_001248369.1
NM_001261441.1 1657 Missense Mutation AAT,GAT N252D NP_001248370.1
NM_001261442.1 1657 UTR 3 NP_001248371.1
NM_001439.3 1657 Missense Mutation AAT,GAT N244D NP_001430.1
XM_005270621.1 1657 Missense Mutation AAT,GAT N244D XP_005270678.1
XM_011540994.2 1657 Missense Mutation AAT,GAT N252D XP_011539296.1
XM_011540995.2 1657 Missense Mutation AAT,GAT N252D XP_011539297.1
XM_011540996.2 1657 Missense Mutation AAT,GAT N251D XP_011539298.1
XM_017000651.1 1657 Missense Mutation AAT,GAT N243D XP_016856140.1

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