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See other GBA2 GT Assays ›
SNP ID:
rs34478611
Gene
GBA2 MSMP NPR2 RGP1
Gene Name
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.9: 35753901 - 35753901 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

TTGTCTTTCCTGTTTCACAGCTGGA[A/G]GAAGCCTGGGTATTTTGACACGGGA

Assay ID C___1294875_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

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

Literature Links:

 GBA2 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.20)
(0.80)
Caucasian
A (0.30)
(0.70)
CEPH (CEU)
A (0.23)
(0.77)
EAS
A (0.40)
(0.60)
African American
A (0.11)
(0.89)
YRI (Yoruba)
A (0.09)
(0.91)
SAS
A (0.15)
(0.85)
Japanese
A (0.31)
(0.69)
JPT (Japanese)
A (0.38)
(0.62)
AFR
A (0.07)
(0.93)
Chinese
A (0.33)
(0.67)
CHB (Han Chinese)
A (0.38)
(0.62)
EUR
A (0.22)
(0.78)
AMR
A (0.22)
(0.78)
GBA2 - glucosylceramidase beta 2
There are no transcripts associated with this gene.
MSMP - microseminoprotein, prostate associated
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001044264.2 957 Intron NP_001037729.1
NPR2 - natriuretic peptide receptor 2
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_003995.3 957 Intron NP_003986.2
XM_005251478.3 957 Intron XP_005251535.1
XM_005251479.4 957 UTR 5 XP_005251536.1
XM_011517890.2 957 UTR 5 XP_011516192.1
XM_011517891.2 957 UTR 5 XP_011516193.1
XM_011517892.2 957 UTR 5 XP_011516194.1
XM_011517893.2 957 UTR 5 XP_011516195.1
XM_011517895.2 957 Intron XP_011516197.1
XM_017014745.1 957 UTR 5 XP_016870234.1
XM_017014746.1 957 UTR 5 XP_016870235.1
XM_017014747.1 957 UTR 5 XP_016870236.1
XM_017014748.1 957 UTR 5 XP_016870237.1
XM_017014749.1 957 UTR 5 XP_016870238.1
XM_017014750.1 957 UTR 5 XP_016870239.1
RGP1 - RGP1 homolog, RAB6A GEF complex partner 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001080496.2 957 Intron NP_001073965.2

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