Product Details

SNP ID
rs75385858
Assay Type
Functionally Tested
NCBI dbSNP Submissions
12
Location
Chr.1:155235765 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACAATGATGGGACTGTCGACAAAG[G/T]TACGCACCCAATTGGGTCCTCCTTC
Phenotype
MIM: 606463
Polymorphism
G/T, 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 1729 Missense Mutation AAC,ACC N435T NP_000148.2
NM_001005741.2 1729 Missense Mutation AAC,ACC N435T NP_001005741.1
NM_001005742.2 1729 Missense Mutation AAC,ACC N435T NP_001005742.1
NM_001171811.1 1729 Missense Mutation AAC,ACC N348T NP_001165282.1
NM_001171812.1 1729 Missense Mutation AAC,ACC N386T NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

View Full Product Details