Product Details

SNP ID
rs142859087
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:33091569 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTAACATTGAGTGTTTACTGTGCA[C/T]GCTGTGCCATGTGGAACTCATGCAC
Phenotype
MIM: 611458
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GLB1 PubMed Links

Gene Details

Gene
GLB1
Gene Name
galactosidase beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000404.3 2818 Intron NP_000395.2
NM_001079811.2 2818 Intron NP_001073279.1
NM_001135602.2 2818 Intron NP_001129074.1
NM_001317040.1 2818 Intron NP_001303969.1
Gene
TMPPE
Gene Name
transmembrane protein with metallophosphoesterase domain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039770.2 2818 UTR 3 NP_001034859.2
NM_001136238.1 2818 UTR 3 NP_001129710.1

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