Product Details

SNP ID
rs75243000
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:155235762 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTACAATGATGGGACTGTCGACA[G/A]AGTTACGCACCCAATTGGGTCCTCC
Phenotype
MIM: 606463
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
GBA PubMed Links

Gene Details

Gene
GBA
Gene Name
glucosylceramidase beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000157.3 1732 Missense Mutation TCT,TTT S436F NP_000148.2
NM_001005741.2 1732 Missense Mutation TCT,TTT S436F NP_001005741.1
NM_001005742.2 1732 Missense Mutation TCT,TTT S436F NP_001005742.1
NM_001171811.1 1732 Missense Mutation TCT,TTT S349F NP_001165282.1
NM_001171812.1 1732 Missense Mutation TCT,TTT S387F NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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