Product Details

SNP ID
rs80356769
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:155235772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGGACTGTCGACAAAGTTACGCA[C/A]CCAATTGGGTCCTCCTTCGGGGTTC
Phenotype
MIM: 606463
Polymorphism
C/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 1722 Missense Mutation GTG,TTG V433L NP_000148.2
NM_001005741.2 1722 Missense Mutation GTG,TTG V433L NP_001005741.1
NM_001005742.2 1722 Missense Mutation GTG,TTG V433L NP_001005742.1
NM_001171811.1 1722 Missense Mutation GTG,TTG V346L NP_001165282.1
NM_001171812.1 1722 Missense Mutation GTG,TTG V384L NP_001165283.1
Gene
GBAP1
Gene Name
glucosylceramidase beta pseudogene 1
There are no transcripts associated with this gene.

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