Product Details

SNP ID
rs12995
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:124636075 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
ATTTAACTCGAACAACAGTTTGCCT[A/C]TGTTGCCCCTGTGTTCATGTTTTCC
Phenotype
MIM: 610079 MIM: 610614
Polymorphism
A/C, 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 2752 UTR 3 NP_001186851.1
NM_170601.4 2752 UTR 3 NP_733746.1
XM_017017930.1 2752 UTR 3 XP_016873419.1
Gene
TBRG1
Gene Name
transforming growth factor beta regulator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032811.2 2752 Intron NP_116200.2
XM_005271709.3 2752 Intron XP_005271766.1
XM_017018442.1 2752 Intron XP_016873931.1

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