Product Details

SNP ID
rs74752878
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:155235699 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCACCTGAAGTGGCCAAGGTGG[T/C]AGAACATGGGCTGTTTGTAAAACGT
Phenotype
MIM: 606463
Polymorphism
T/C, 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 1795 Missense Mutation TAC,TGC Y457C NP_000148.2
NM_001005741.2 1795 Missense Mutation TAC,TGC Y457C NP_001005741.1
NM_001005742.2 1795 Missense Mutation TAC,TGC Y457C NP_001005742.1
NM_001171811.1 1795 Missense Mutation TAC,TGC Y370C NP_001165282.1
NM_001171812.1 1795 Missense Mutation TAC,TGC Y408C NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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