Product Details

SNP ID
rs140152448
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:100896300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCATCAAAGACGATGAATACAAAC[C/T]ACCCAAGTTCAATTTGTTCGGCAAG
Phenotype
MIM: 602411 MIM: 611149
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_001033025.2 223 Intron NP_001028197.1
NM_001261440.1 223 Intron NP_001248369.1
NM_001261441.1 223 Intron NP_001248370.1
NM_001261442.1 223 Intron NP_001248371.1
NM_001439.3 223 Intron NP_001430.1
XM_005270621.1 223 Intron XP_005270678.1
XM_011540994.2 223 Intron XP_011539296.1
XM_011540995.2 223 Intron XP_011539297.1
XM_011540996.2 223 Intron XP_011539298.1
XM_017000651.1 223 Intron XP_016856140.1
Gene
SLC30A7
Gene Name
solute carrier family 30 member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144884.1 223 Missense Mutation CCA,CTA P13L NP_001138356.1
NM_133496.4 223 Missense Mutation CCA,CTA P13L NP_598003.2
XM_011540779.2 223 UTR 5 XP_011539081.1
XM_017000400.1 223 Missense Mutation CCA,CTA P13L XP_016855889.1
XM_017000401.1 223 Missense Mutation CCA,CTA P13L XP_016855890.1

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