Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTTAATTTTCCTAGTCCTCCCACAG[G/T]TGCTCTGTCTGTGCCCGTTGTAAAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601623 | ||||||||||||||||||||
Literature Links: |
UBE3A 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 |
UBE3A - ubiquitin protein ligase E3A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000462.3 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | NP_000453.2 | |
NM_130838.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | NP_570853.1 | |
NM_130839.2 | 2859 | Missense Mutation | ACT,CCT | T,P 813 | NP_570854.1 | |
XM_005268267.4 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_005268324.1 | |
XM_005268268.4 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_005268325.1 | |
XM_005268269.4 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_005268326.1 | |
XM_005268270.4 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_005268327.1 | |
XM_005268271.4 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_005268328.1 | |
XM_006720675.3 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_006720738.1 | |
XM_006720676.3 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_006720739.1 | |
XM_011521994.2 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | XP_011520296.1 | |
XM_011521995.2 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | XP_011520297.1 | |
XM_017022544.1 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | XP_016878033.1 | |
XM_017022545.1 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | XP_016878034.1 | |
XM_017022546.1 | 2859 | Missense Mutation | ACT,CCT | T,P 816 | XP_016878035.1 | |
XM_017022547.1 | 2859 | Missense Mutation | ACT,CCT | T,P 813 | XP_016878036.1 | |
XM_017022548.1 | 2859 | Missense Mutation | ACT,CCT | T,P 813 | XP_016878037.1 | |
XM_017022549.1 | 2859 | Missense Mutation | ACT,CCT | T,P 813 | XP_016878038.1 | |
XM_017022550.1 | 2859 | Missense Mutation | ACT,CCT | T,P 813 | XP_016878039.1 | |
XM_017022551.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_016878040.1 | |
XM_017022552.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_016878041.1 | |
XM_017022553.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_016878042.1 | |
XM_017022554.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_016878043.1 | |
XM_017022555.1 | 2859 | Missense Mutation | ACT,CCT | T,P 793 | XP_016878044.1 | |
XM_017022556.1 | 2859 | Missense Mutation | ACT,CCT | T,P 764 | XP_016878045.1 | |
XM_017022557.1 | 2859 | Missense Mutation | ACT,CCT | T,P 761 | XP_016878046.1 | |
XM_017022558.1 | 2859 | Missense Mutation | ACT,CCT | T,P 741 | XP_016878047.1 | |
XM_017022559.1 | 2859 | Missense Mutation | ACT,CCT | T,P 741 | XP_016878048.1 |