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AAACATTTTAATGAAGGCTTCGTTG[A/G]CAATGCCAGATGGGTCAACTATGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603307 MIM: 162151 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BFSP1 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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BFSP1 - beaded filament structural protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161705.1 | 2170 | UTR 3 | NP_001155177.1 | |||
NM_001195.4 | 2170 | UTR 3 | NP_001186.1 | |||
NM_001278606.1 | 2170 | UTR 3 | NP_001265535.1 | |||
NM_001278607.1 | 2170 | UTR 3 | NP_001265536.1 | |||
NM_001278608.1 | 2170 | UTR 3 | NP_001265537.1 | |||
XM_017028005.1 | 2170 | UTR 3 | XP_016883494.1 |
PCSK2 - proprotein convertase subtilisin/kexin type 2 | ||||||
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There are no transcripts associated with this gene. |