Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTGCCCCCCTTACTTCTTGGCGTC[A/C]TCAGGCATCTCGGCGTGGGCATCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 605200 MIM: 612203 | ||||||||||||||||||||
Literature Links: |
HERC3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
HERC3 - HECT and RLD domain containing E3 ubiquitin protein ligase 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271602.1 | 1015 | Intron | NP_001258531.1 | |||
NM_001318505.1 | 1015 | Intron | NP_001305434.1 | |||
NM_014606.2 | 1015 | Intron | NP_055421.1 | |||
XM_005263327.3 | 1015 | Intron | XP_005263384.1 | |||
XM_005263329.3 | 1015 | Intron | XP_005263386.1 | |||
XM_005263330.3 | 1015 | Intron | XP_005263387.1 | |||
XM_005263331.1 | 1015 | Intron | XP_005263388.1 | |||
XM_005263332.3 | 1015 | Intron | XP_005263389.1 | |||
XM_011532397.2 | 1015 | Intron | XP_011530699.1 | |||
XM_017008806.1 | 1015 | Intron | XP_016864295.1 | |||
XM_017008807.1 | 1015 | Intron | XP_016864296.1 | |||
XM_017008808.1 | 1015 | Intron | XP_016864297.1 |
NAP1L5 - nucleosome assembly protein 1 like 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153757.3 | 1015 | Missense Mutation | GAG,GAT | E,D 178 | NP_715638.1 |