Product Details

SNP ID

rs121908310

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155235760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCTACAATGATGGGACTGTCGA[C/A]AAAGTTACGCACCCAATTGGGTCCT

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	1734	Missense Mutation	GTC,TTC	V437F	NP_000148.2
NM_001005741.2	1734	Missense Mutation	GTC,TTC	V437F	NP_001005741.1
NM_001005742.2	1734	Missense Mutation	GTC,TTC	V437F	NP_001005742.1
NM_001171811.1	1734	Missense Mutation	GTC,TTC	V350F	NP_001165282.1
NM_001171812.1	1734	Missense Mutation	GTC,TTC	V388F	NP_001165283.1

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

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