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TTACGCACCCAATTGGGTCCTCCTT[C/T]GGGGTTCAGGGCAAGGTTCCAGTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 606463 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBA 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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GBA - glucosylceramidase beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000157.3 | 1704 | Missense Mutation | AAA,GAA | K,E 427 | NP_000148.2 | |
NM_001005741.2 | 1704 | Missense Mutation | AAA,GAA | K,E 427 | NP_001005741.1 | |
NM_001005742.2 | 1704 | Missense Mutation | AAA,GAA | K,E 427 | NP_001005742.1 | |
NM_001171811.1 | 1704 | Missense Mutation | AAA,GAA | K,E 340 | NP_001165282.1 | |
NM_001171812.1 | 1704 | Missense Mutation | AAA,GAA | K,E 378 | NP_001165283.1 |
GBAP1 - glucosylceramidase beta pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |