Product Details

SNP ID
rs75564605
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:155235747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGTGTCCTTGGTGATGTCTACAATG[G/A]TGGGACTGTCGACAAAGTTACGCAC
Phenotype
MIM: 606463
Polymorphism
G/A, 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 1747 Missense Mutation ACC,ATC T441I NP_000148.2
NM_001005741.2 1747 Missense Mutation ACC,ATC T441I NP_001005741.1
NM_001005742.2 1747 Missense Mutation ACC,ATC T441I NP_001005742.1
NM_001171811.1 1747 Missense Mutation ACC,ATC T354I NP_001165282.1
NM_001171812.1 1747 Missense Mutation ACC,ATC T392I NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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