Product Details

SNP ID
rs77284004
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:155235813 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCGGGGTTCAGGGCAAGGTTCCAG[G/T]CGGTCCAGCCGACCACATGGTACAG
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 1681 Missense Mutation GAC,GCC D419A NP_000148.2
NM_001005741.2 1681 Missense Mutation GAC,GCC D419A NP_001005741.1
NM_001005742.2 1681 Missense Mutation GAC,GCC D419A NP_001005742.1
NM_001171811.1 1681 Missense Mutation GAC,GCC D332A NP_001165282.1
NM_001171812.1 1681 Missense Mutation GAC,GCC D370A NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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