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GTTGGGACGTTTGGCATCTTCAAAT[C/G]TGTGTACAGACTTGGCGAGGACGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609471 MIM: 612191 MIM: 108961 MIM: 615742 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBA2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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GBA2 - glucosylceramidase beta 2 | ||||||
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There are no transcripts associated with this gene. |
MSMP - microseminoprotein, prostate associated | ||||||
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There are no transcripts associated with this gene. |
NPR2 - natriuretic peptide receptor 2 | ||||||
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There are no transcripts associated with this gene. |
RGP1 - RGP1 homolog, RAB6A GEF complex partner 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080496.2 | 840 | Missense Mutation | TCT,TGT | S,C 231 | NP_001073965.2 |