Product Details

SNP ID
rs147161431
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124637183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGCTGGAAGCCACTTGCATCGA[A/T]GGTCACTGCAACAGGAGATCTAATA
Phenotype
MIM: 610079 MIM: 610614
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SIAE PubMed Links

Gene Details

Gene
SIAE
Gene Name
sialic acid acetylesterase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199922.1 1644 Missense Mutation CAT,CGT H412R NP_001186851.1
NM_170601.4 1644 Missense Mutation CAT,CGT H447R NP_733746.1
XM_017017930.1 1644 Missense Mutation CAT,CGT H256R XP_016873419.1
Gene
TBRG1
Gene Name
transforming growth factor beta regulator 1
There are no transcripts associated with this gene.

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