Product Details

SNP ID
rs150382361
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124637107 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATAGCGGAGAGCAACCACAGTGCC[A/T]TGACAAGAATCGATCGCCAGGGTCA
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 1720 Missense Mutation CAA,CAT Q437H NP_001186851.1
NM_170601.4 1720 Missense Mutation CAA,CAT Q472H NP_733746.1
XM_017017930.1 1720 Missense Mutation CAA,CAT Q281H XP_016873419.1
Gene
TBRG1
Gene Name
transforming growth factor beta regulator 1
There are no transcripts associated with this gene.

View Full Product Details