Product Details

SNP ID
rs201445534
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:134277786 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGCACAGGTCGGGGTAAGCCCC[A/T]CTTCACACTGGAGGGCCACAAGTTC
Phenotype
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
GLB1L3 PubMed Links

Gene Details

Gene
GLB1L3
Gene Name
galactosidase beta 1 like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080407.2 666 Missense Mutation CAC,CTC H79L NP_001073876.2
XM_011542566.2 666 Missense Mutation CAC,CTC H126L XP_011540868.1
XM_011542567.2 666 Missense Mutation CAC,CTC H126L XP_011540869.1
XM_011542568.2 666 Missense Mutation CAC,CTC H126L XP_011540870.1
XM_011542569.2 666 Missense Mutation CAC,CTC H126L XP_011540871.1
XM_011542570.2 666 Missense Mutation CAC,CTC H126L XP_011540872.1
XM_011542571.2 666 Missense Mutation CAC,CTC H126L XP_011540873.1
XM_011542572.1 666 Intron XP_011540874.1
XM_011542573.1 666 Intron XP_011540875.1
XM_011542574.2 666 Intron XP_011540876.1
XM_017017155.1 666 Missense Mutation CAC,CTC H79L XP_016872644.1
XM_017017156.1 666 Missense Mutation CAC,CTC H79L XP_016872645.1

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