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GGATGGTCGGCAGTGAAATTTTCTT[C/T]GGGCATCAACATGCAGAAAGTTGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 130135 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SERPINB1 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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SERPINB1 - serpin family B member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_030666.3 | 1425 | Missense Mutation | AAA,GAA | K,E 349 | NP_109591.1 | |
XM_011514333.1 | 1425 | Missense Mutation | AAA,GAA | K,E 349 | XP_011512635.1 | |
XM_011514334.2 | 1425 | Missense Mutation | AAA,GAA | K,E 349 | XP_011512636.1 | |
XM_011514335.2 | 1425 | Missense Mutation | AAA,GAA | K,E 300 | XP_011512637.1 |