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ACAGCTGAGTTCTCATCAAAGGTCG[C/G]GGCTGTGGATACACTGGAGAGGGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 178640 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SFTPB 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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SFTPB - surfactant protein B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000542.3 | 1272 | Missense Mutation | CCC,CGC | P,R 391 | NP_000533.3 | |
NM_198843.2 | 1272 | Missense Mutation | CCC,CGC | P,R 391 | NP_942140.2 | |
XM_005264487.2 | 1272 | Missense Mutation | CCC,CGC | P,R 391 | XP_005264544.1 | |
XM_005264488.3 | 1272 | Missense Mutation | CCC,CGC | P,R 375 | XP_005264545.2 | |
XM_005264490.4 | 1272 | Intron | XP_005264547.2 | |||
XM_017004702.1 | 1272 | Missense Mutation | CCC,CGC | P,R 391 | XP_016860191.1 | |
XM_017004703.1 | 1272 | Missense Mutation | CCC,CGC | P,R 375 | XP_016860192.1 |