Product Details

SNP ID
rs143158972
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:46777466 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCTAATACTTGCCTCTTGCAAT[C/T]GAAAAACAACGGGGATTTTCTTTTC
Phenotype
MIM: 133280
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ESD PubMed Links

Gene Details

Gene
ESD
Gene Name
esterase D
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001984.1 1005 Missense Mutation CCA,CTA P253L NP_001975.1
XM_005266278.2 1005 Missense Mutation XP_005266335.1
XM_011534954.1 1005 Missense Mutation XP_011533256.1
XM_017020414.1 1005 Missense Mutation XP_016875903.1

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