Product Details

SNP ID

rs1064651

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:155235727 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACATGGGCTGTTTGTAAAACGTGT[C/G]CTTGGTGATGTCTACAATGATGGGA

Phenotype

MIM: 606463

Polymorphism

C/G, 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	1767	Missense Mutation	CAC,GAC	H448D	NP_000148.2
NM_001005741.2	1767	Missense Mutation	CAC,GAC	H448D	NP_001005741.1
NM_001005742.2	1767	Missense Mutation	CAC,GAC	H448D	NP_001005742.1
NM_001171811.1	1767	Missense Mutation	CAC,GAC	H361D	NP_001165282.1
NM_001171812.1	1767	Missense Mutation	CAC,GAC	H399D	NP_001165283.1

Gene

GBAP1

Gene Name

glucosylceramidase beta pseudogene 1

There are no transcripts associated with this gene.

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