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TGGGAAAGGCTGAAATGGATCATTC[A/T]GTTTAAAGGGATCAGGAGAATCCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 600051 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPS15 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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EPS15 - epidermal growth factor receptor pathway substrate 15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159969.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 488 | NP_001153441.1 | |
NM_001981.2 | 2438 | Missense Mutation | CAG,CTG | Q,L 802 | NP_001972.1 | |
XM_005270618.2 | 2438 | Missense Mutation | CAG,CTG | Q,L 772 | XP_005270675.1 | |
XM_017000615.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 839 | XP_016856104.1 | |
XM_017000616.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 771 | XP_016856105.1 | |
XM_017000617.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 734 | XP_016856106.1 | |
XM_017000618.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 704 | XP_016856107.1 | |
XM_017000619.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 614 | XP_016856108.1 | |
XM_017000620.1 | 2438 | Missense Mutation | CAG,CTG | Q,L 564 | XP_016856109.1 |