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AGGTTCCAGTCGGTCCAGCCGACCA[A/C]ATGGTACAGGAGGTTCTAGGGTAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GBA - glucosylceramidase beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000157.3 | 1665 | Missense Mutation | GTG,TTG | V,L 414 | NP_000148.2 | |
NM_001005741.2 | 1665 | Missense Mutation | GTG,TTG | V,L 414 | NP_001005741.1 | |
NM_001005742.2 | 1665 | Missense Mutation | GTG,TTG | V,L 414 | NP_001005742.1 | |
NM_001171811.1 | 1665 | Missense Mutation | GTG,TTG | V,L 327 | NP_001165282.1 | |
NM_001171812.1 | 1665 | Missense Mutation | GTG,TTG | V,L 365 | NP_001165283.1 |
GBAP1 - glucosylceramidase beta pseudogene 1 | ||||||
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There are no transcripts associated with this gene. |