Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616598 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BORCS5 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)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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BORCS5 - BLOC-1 related complex subunit 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011520551.2 | 138 | Missense Mutation | TCC,TGC | S,C 11 | XP_011518853.1 | |
XM_011520552.2 | 138 | Intron | XP_011518854.1 | |||
XM_011520553.2 | 138 | Missense Mutation | TCC,TGC | S,C 41 | XP_011518855.1 | |
XM_017018778.1 | 138 | Missense Mutation | TCC,TGC | S,C 41 | XP_016874267.1 |
LOH12CR2 - loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |