Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 107400 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
SERPINA1 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
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba)
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SAS
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Japanese
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JPT (Japanese)
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AFR
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Chinese
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CHB (Han Chinese)
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EUR
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AMR
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SERPINA1 - serpin family A member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000295.4 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_000286.3 | |
NM_001002235.2 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001002235.1 | |
NM_001002236.2 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001002236.1 | |
NM_001127700.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121172.1 | |
NM_001127701.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121173.1 | |
NM_001127702.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121174.1 | |
NM_001127703.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121175.1 | |
NM_001127704.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121176.1 | |
NM_001127705.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121177.1 | |
NM_001127706.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121178.1 | |
NM_001127707.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | NP_001121179.1 | |
XM_017021370.1 | 1733 | Missense Mutation | GAA,GAC | E,D 400 | XP_016876859.1 |
Set Membership: |
HapMap Validated |