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GGTAGTACCCGAGAGGGTGACTGGC[C/T]CTGGGTCCCAGGGGTCCCCGGCTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 614989 | ||||||||||||||||||||
Literature Links: |
EPS8L3 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 |
EPS8L3 - EPS8 like 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319952.1 | 1693 | Missense Mutation | AGC,GGC | S,G 453 | NP_001306881.1 | |
NM_024526.3 | 1693 | Missense Mutation | AGC,GGC | S,G 486 | NP_078802.2 | |
NM_133181.3 | 1693 | Missense Mutation | AGC,GGC | S,G 516 | NP_573444.2 | |
NM_139053.2 | 1693 | Missense Mutation | AGC,GGC | S,G 517 | NP_620641.1 | |
XM_011542132.1 | 1693 | Missense Mutation | AGC,GGC | S,G 525 | XP_011540434.1 | |
XM_011542133.1 | 1693 | Missense Mutation | AGC,GGC | S,G 524 | XP_011540435.1 | |
XM_011542134.2 | 1693 | Missense Mutation | AGC,GGC | S,G 491 | XP_011540436.1 | |
XM_011542135.2 | 1693 | Missense Mutation | AGC,GGC | S,G 461 | XP_011540437.1 | |
XM_017002327.1 | 1693 | Missense Mutation | AGC,GGC | S,G 525 | XP_016857816.1 | |
XM_017002328.1 | 1693 | Missense Mutation | AGC,GGC | S,G 495 | XP_016857817.1 | |
XM_017002329.1 | 1693 | Missense Mutation | AGC,GGC | S,G 487 | XP_016857818.1 |