Product Details

SNP ID
rs78802049
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:155235725 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAACATGGGCTGTTTGTAAAACGT[G/C]TCCTTGGTGATGTCTACAATGATGG
Phenotype
MIM: 606463
Polymorphism
G/C, 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 1769 Missense Mutation GAC,GAG D448E NP_000148.2
NM_001005741.2 1769 Missense Mutation GAC,GAG D448E NP_001005741.1
NM_001005742.2 1769 Missense Mutation GAC,GAG D448E NP_001005742.1
NM_001171811.1 1769 Missense Mutation GAC,GAG D361E NP_001165282.1
NM_001171812.1 1769 Missense Mutation GAC,GAG D399E NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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