Product Details

SNP ID
rs139542437
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:32997235 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTCCAGTTCCAGCACGGTGATG[G/T]TGTTTGGGGCCGAGGTCATCAGGAT
Phenotype
MIM: 611458
Polymorphism
G/T, Transversion 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 1883 Missense Mutation AAC,ACC N615T NP_000395.2
NM_001079811.2 1883 Missense Mutation AAC,ACC N585T NP_001073279.1
NM_001135602.2 1883 Missense Mutation AAC,ACC N484T NP_001129074.1
NM_001317040.1 1883 Missense Mutation AAC,ACC N663T NP_001303969.1

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