Product Details

SNP ID: rs75140576
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:35754068 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGGAGTAGAGACATCACCAAGCAG[A/C]TGATCCCCCAGCCTCCTAGGATCCC
Phenotype: MIM: 609471 MIM: 612191 MIM: 108961 MIM: 615742
Polymorphism: A/C, Transversion 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001044264.2	1124	Missense Mutation	AGC,ATC	S21I	NP_001037729.1

Gene: NPR2
Gene Name: natriuretic peptide receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003995.3	1124	Intron			NP_003986.2
XM_005251478.3	1124	Intron			XP_005251535.1
XM_005251479.4	1124	UTR 5			XP_005251536.1
XM_011517890.2	1124	UTR 5			XP_011516192.1
XM_011517891.2	1124	UTR 5			XP_011516193.1
XM_011517892.2	1124	UTR 5			XP_011516194.1
XM_011517893.2	1124	UTR 5			XP_011516195.1
XM_011517895.2	1124	Intron			XP_011516197.1
XM_017014745.1	1124	UTR 5			XP_016870234.1
XM_017014746.1	1124	UTR 5			XP_016870235.1
XM_017014747.1	1124	UTR 5			XP_016870236.1
XM_017014748.1	1124	UTR 5			XP_016870237.1
XM_017014749.1	1124	UTR 5			XP_016870238.1
XM_017014750.1	1124	UTR 5			XP_016870239.1

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	1124	Intron			NP_001073965.2

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