Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTGCAGCCAGTCTGTGACCTCTT[T/C]AGGCCTCGAGCTAAGTCGAAGCATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
19 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 614989 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EPS8L3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
EPS8L3 - EPS8 like 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319952.1 | 1741 | Missense Mutation | AAA,GAA | K,E 469 | NP_001306881.1 | |
NM_024526.3 | 1741 | Missense Mutation | AAA,GAA | K,E 502 | NP_078802.2 | |
NM_133181.3 | 1741 | Missense Mutation | AAA,GAA | K,E 532 | NP_573444.2 | |
NM_139053.2 | 1741 | Missense Mutation | AAA,GAA | K,E 533 | NP_620641.1 | |
XM_011542132.1 | 1741 | Missense Mutation | AAA,GAA | K,E 541 | XP_011540434.1 | |
XM_011542133.1 | 1741 | Missense Mutation | AAA,GAA | K,E 540 | XP_011540435.1 | |
XM_011542134.2 | 1741 | Missense Mutation | AAA,GAA | K,E 507 | XP_011540436.1 | |
XM_011542135.2 | 1741 | Missense Mutation | AAA,GAA | K,E 477 | XP_011540437.1 | |
XM_017002327.1 | 1741 | Intron | XP_016857816.1 | |||
XM_017002328.1 | 1741 | Missense Mutation | AAA,GAA | K,E 511 | XP_016857817.1 | |
XM_017002329.1 | 1741 | Missense Mutation | AAA,GAA | K,E 503 | XP_016857818.1 |