Product Details

SNP ID

rs62637641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:35751379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCTAGCTGAGCTGGCTGGGGAA[C/T]GCCTAATGGCTGCCACATCCTGCCG

Phenotype

MIM: 609471 MIM: 612191 MIM: 108961 MIM: 615742

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GBA2 PubMed Links

Gene Details

Gene

GBA2

Gene Name

glucosylceramidase beta 2

There are no transcripts associated with this gene.

Gene

MSMP

Gene Name

microseminoprotein, prostate associated

There are no transcripts associated with this gene.

Gene

NPR2

Gene Name

natriuretic peptide receptor 2

There are no transcripts associated with this gene.

Gene

RGP1

Gene Name

RGP1 homolog, RAB6A GEF complex partner 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080496.2	749	Missense Mutation	CGC,TGC	R201C	NP_001073965.2

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