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ACATGAAGTTACAATGGCACCATTC[C/T]GTTTACCAGCTGCACCTTCATTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600004 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPHA5 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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EPHA5 - EPH receptor A5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281765.2 | 3638 | Missense Mutation | AGA,GGA | R,G 1034 | NP_001268694.1 | |
NM_001281766.2 | 3638 | Missense Mutation | AGA,GGA | R,G 1012 | NP_001268695.1 | |
NM_001281767.2 | 3638 | Intron | NP_001268696.1 | |||
NM_001318761.1 | 3638 | Missense Mutation | AGA,GGA | R,G 965 | NP_001305690.1 | |
NM_004439.7 | 3638 | Missense Mutation | AGA,GGA | R,G 1033 | NP_004430.4 | |
NM_182472.4 | 3638 | Missense Mutation | AGA,GGA | R,G 1011 | NP_872272.2 | |
XM_005265653.3 | 3638 | Missense Mutation | AGA,GGA | R,G 870 | XP_005265710.1 | |
XM_011531735.2 | 3638 | Missense Mutation | AGA,GGA | R,G 922 | XP_011530037.1 | |
XM_017007878.1 | 3638 | Missense Mutation | AGA,GGA | R,G 900 | XP_016863367.1 | |
XM_017007879.1 | 3638 | Intron | XP_016863368.1 | |||
XM_017007880.1 | 3638 | Missense Mutation | AGA,GGA | R,G 848 | XP_016863369.1 | |
XM_017007881.1 | 3638 | Intron | XP_016863370.1 |