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CACCTCCCAGAACCACTGGATCAGC[A/G]ATGCGGAAGGCTCGATGCCTTTATA
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 7534 | Missense Mutation | TCG,TTG | S,L 4699 | NP_004658.3 | |
XM_005268276.4 | 7534 | Missense Mutation | TCG,TTG | S,L 4661 | XP_005268333.1 | |
XM_006720726.3 | 7534 | Missense Mutation | TCG,TTG | S,L 4694 | XP_006720789.1 | |
XM_006720727.3 | 7534 | Missense Mutation | TCG,TTG | S,L 4613 | XP_006720790.1 | |
XM_011522131.2 | 7534 | Missense Mutation | TCG,TTG | S,L 4538 | XP_011520433.1 | |
XM_011522133.2 | 7534 | Missense Mutation | TCG,TTG | S,L 3614 | XP_011520435.1 | |
XM_017022695.1 | 7534 | Missense Mutation | TCG,TTG | S,L 4661 | XP_016878184.1 | |
XM_017022696.1 | 7534 | Missense Mutation | TCG,TTG | S,L 4661 | XP_016878185.1 | |
XM_017022697.1 | 7534 | Missense Mutation | TCG,TTG | S,L 2421 | XP_016878186.1 | |
XM_017022698.1 | 7534 | Missense Mutation | TCG,TTG | S,L 2421 | XP_016878187.1 |