Product Details

SNP ID
rs77369218
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:155235726 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAACATGGGCTGTTTGTAAAACGTG[T/A]CCTTGGTGATGTCTACAATGATGGG
Phenotype
MIM: 606463
Polymorphism
T/A, Transversion 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 1768 Missense Mutation GAC,GTC D448V NP_000148.2
NM_001005741.2 1768 Missense Mutation GAC,GTC D448V NP_001005741.1
NM_001005742.2 1768 Missense Mutation GAC,GTC D448V NP_001005742.1
NM_001171811.1 1768 Missense Mutation GAC,GTC D361V NP_001165282.1
NM_001171812.1 1768 Missense Mutation GAC,GTC D399V NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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