Product Details

SNP ID
rs77035024
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:155235719 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGGTAGAACATGGGCTGTTTGTA[T/A]AACGTGTCCTTGGTGATGTCTACAA
Phenotype
MIM: 606463
Polymorphism
T/A, 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 1775 Missense Mutation TTA,TTT L450F NP_000148.2
NM_001005741.2 1775 Missense Mutation TTA,TTT L450F NP_001005741.1
NM_001005742.2 1775 Missense Mutation TTA,TTT L450F NP_001005742.1
NM_001171811.1 1775 Missense Mutation TTA,TTT L363F NP_001165282.1
NM_001171812.1 1775 Missense Mutation TTA,TTT L401F NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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