Product Details

SNP ID

rs76014919

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:155235818 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCAGGGCAAGGTTCCAGTCGGT[A/C]CAGCCGACCACATGGTACAGGAGGT

Phenotype

MIM: 606463

Polymorphism

A/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	1676	Missense Mutation	TGG,TGT	W417C	NP_000148.2
NM_001005741.2	1676	Missense Mutation	TGG,TGT	W417C	NP_001005741.1
NM_001005742.2	1676	Missense Mutation	TGG,TGT	W417C	NP_001005742.1
NM_001171811.1	1676	Missense Mutation	TGG,TGT	W330C	NP_001165282.1
NM_001171812.1	1676	Missense Mutation	TGG,TGT	W368C	NP_001165283.1

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

View Full Product Details