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ATATGAGAAACATGGAGGTTTTCTG[A/C]CCCTGCTTCCAGAAAATAAAACAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 177010 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SERPINE2 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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SERPINE2 - serpin family E member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136528.1 | 1049 | Missense Mutation | GCA,TCA | A,S 330 | NP_001130000.1 | |
NM_001136530.1 | 1049 | Missense Mutation | GCA,TCA | A,S 342 | NP_001130002.1 | |
NM_006216.3 | 1049 | Missense Mutation | GCA,TCA | A,S 331 | NP_006207.1 | |
XM_005246641.2 | 1049 | Missense Mutation | GCA,TCA | A,S 343 | XP_005246698.1 | |
XM_017004329.1 | 1049 | Missense Mutation | GCA,TCA | A,S 331 | XP_016859818.1 | |
XM_017004330.1 | 1049 | Missense Mutation | GCA,TCA | A,S 331 | XP_016859819.1 | |
XM_017004331.1 | 1049 | Missense Mutation | GCA,TCA | A,S 330 | XP_016859820.1 | |
XM_017004332.1 | 1049 | Missense Mutation | GCA,TCA | A,S 330 | XP_016859821.1 |