Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAAGGGCAGCGGGCTAGGCGGAAGA[A/G]GCAGGCTTCAGAGCAGAGCCCTGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
22 submissions
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Phenotype: |
MIM: 606463 MIM: 606913 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM189B 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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FAM189B - family with sequence similarity 189 member B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267608.1 | 2206 | Missense Mutation | CTC,TTC | L,F 516 | NP_001254537.1 | |
NM_006589.2 | 2206 | Missense Mutation | CTC,TTC | L,F 534 | NP_006580.2 | |
NM_198264.1 | 2206 | Missense Mutation | CTC,TTC | L,F 438 | NP_937995.1 | |
XM_005244845.1 | 2206 | Missense Mutation | CTC,TTC | L,F 535 | XP_005244902.1 |
GBA - glucosylceramidase beta | ||||||
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There are no transcripts associated with this gene. |
SCAMP3 - secretory carrier membrane protein 3 | ||||||
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There are no transcripts associated with this gene. |