Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCTGGATGACGAAGTCTCGGCCCC[A/G]GAAGTCGGCGATGGTCCTGGGCAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605837 | ||||||||||||||||||||
Literature Links: |
HERC2 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 |
HERC2 - HECT and RLD domain containing E3 ubiquitin protein ligase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004667.5 | 7647 | Missense Mutation | CGG,TGG | R,W 4737 | NP_004658.3 | |
XM_005268276.4 | 7647 | Missense Mutation | CGG,TGG | R,W 4699 | XP_005268333.1 | |
XM_006720726.3 | 7647 | Missense Mutation | CGG,TGG | R,W 4732 | XP_006720789.1 | |
XM_006720727.3 | 7647 | Missense Mutation | CGG,TGG | R,W 4651 | XP_006720790.1 | |
XM_011522131.2 | 7647 | Missense Mutation | CGG,TGG | R,W 4576 | XP_011520433.1 | |
XM_011522133.2 | 7647 | Missense Mutation | CGG,TGG | R,W 3652 | XP_011520435.1 | |
XM_017022695.1 | 7647 | Missense Mutation | CGG,TGG | R,W 4699 | XP_016878184.1 | |
XM_017022696.1 | 7647 | Missense Mutation | CGG,TGG | R,W 4699 | XP_016878185.1 | |
XM_017022697.1 | 7647 | Missense Mutation | CGG,TGG | R,W 2459 | XP_016878186.1 | |
XM_017022698.1 | 7647 | Missense Mutation | CGG,TGG | R,W 2459 | XP_016878187.1 |