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AGAAAGACGAAGAGGCAGGAGAGCA[C/G]TGGCCTCAGATATCCCCCATCTTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 131399 MIM: 609883 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPX 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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EPX - eosinophil peroxidase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000502.5 | 1827 | Intron | NP_000493.1 |
MKS1 - Meckel syndrome, type 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165927.1 | 1827 | UTR 3 | NP_001159399.1 | |||
NM_001321268.1 | 1827 | UTR 3 | NP_001308197.1 | |||
NM_001321269.1 | 1827 | Missense Mutation | ACT,AGT | T,S 552 | NP_001308198.1 | |
NM_017777.3 | 1827 | UTR 3 | NP_060247.2 | |||
XM_005257485.3 | 1827 | Missense Mutation | ACT,AGT | T,S 409 | XP_005257542.1 | |
XM_006721965.2 | 1827 | Missense Mutation | ACT,AGT | T,S 349 | XP_006722028.1 | |
XM_011524957.2 | 1827 | Missense Mutation | ACT,AGT | T,S 555 | XP_011523259.1 | |
XM_011524958.2 | 1827 | UTR 3 | XP_011523260.1 | |||
XM_011524959.2 | 1827 | UTR 3 | XP_011523261.1 | |||
XM_011524960.2 | 1827 | Intron | XP_011523262.1 | |||
XM_017024803.1 | 1827 | UTR 3 | XP_016880292.1 | |||
XM_017024804.1 | 1827 | Intron | XP_016880293.1 | |||
XM_017024805.1 | 1827 | UTR 3 | XP_016880294.1 |