Product Details

SNP ID

rs78346899

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:155235716 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGGTGGTAGAACATGGGCTGTTT[G/A]TAAAACGTGTCCTTGGTGATGTCTA

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	1778	Silent Mutation	TAC,TAT	Y451Y	NP_000148.2
NM_001005741.2	1778	Silent Mutation	TAC,TAT	Y451Y	NP_001005741.1
NM_001005742.2	1778	Silent Mutation	TAC,TAT	Y451Y	NP_001005742.1
NM_001171811.1	1778	Silent Mutation	TAC,TAT	Y364Y	NP_001165282.1
NM_001171812.1	1778	Silent Mutation	TAC,TAT	Y402Y	NP_001165283.1

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

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