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Search Thermo Fisher Scientific
CCAGGGGGCTCTGCACAATTACCGC[G/T]CGGGCCGCGGGGAGCGCAGGGCGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614987 | ||||||||||||||||||||
Literature Links: |
EPS8L1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
EPS8L1 - EPS8 like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017729.3 | 582 | Missense Mutation | GCG,TCG | A,S 33 | NP_060199.3 | |
NM_133180.2 | 582 | Missense Mutation | GCG,TCG | A,S 160 | NP_573441.2 | |
XM_005259020.1 | 582 | Missense Mutation | GCG,TCG | A,S 160 | XP_005259077.1 | |
XM_011527050.1 | 582 | Missense Mutation | GCG,TCG | A,S 33 | XP_011525352.1 | |
XM_011527051.2 | 582 | Missense Mutation | GCG,TCG | A,S 160 | XP_011525353.1 | |
XM_011527052.2 | 582 | Missense Mutation | GCG,TCG | A,S 160 | XP_011525354.1 |