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Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 178635 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BMS1P21 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)
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SAS
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Chinese - Not Available | CHB (Han Chinese)
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AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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BMS1P21 - BMS1, ribosome biogenesis factor pseudogene 21 | ||||||
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There are no transcripts associated with this gene. |
SFTPD - surfactant protein D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003019.4 | 968 | Missense Mutation | AAG,GAG | K,E 309 | NP_003010.4 | |
XM_011540087.1 | 968 | Missense Mutation | AAG,GAG | K,E 309 | XP_011538389.1 | |
XM_011540088.2 | 968 | Missense Mutation | AAG,GAG | K,E 270 | XP_011538390.1 |
Set Membership: |
HapMap |