Search Thermo Fisher Scientific
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AATAAACCAAGTCAACATACCATGT[A/G]CTTGAAGTTGGTAAAAGATTTGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610876 | ||||||||||||||||||||
Literature Links: |
HACE1 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 |
HACE1 - HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321080.1 | 2436 | Silent Mutation | AGC,AGT | S,S 830 | NP_001308009.1 | |
NM_001321083.1 | 2436 | Silent Mutation | AGC,AGT | S,S 840 | NP_001308012.1 | |
NM_001321084.1 | 2436 | Silent Mutation | AGC,AGT | S,S 706 | NP_001308013.1 | |
NM_020771.3 | 2436 | Silent Mutation | AGC,AGT | S,S 874 | NP_065822.2 | |
XM_017011113.1 | 2436 | Silent Mutation | AGC,AGT | S,S 796 | XP_016866602.1 | |
XM_017011114.1 | 2436 | Silent Mutation | AGC,AGT | S,S 796 | XP_016866603.1 | |
XM_017011115.1 | 2436 | Silent Mutation | AGC,AGT | S,S 712 | XP_016866604.1 | |
XM_017011116.1 | 2436 | Silent Mutation | AGC,AGT | S,S 706 | XP_016866605.1 | |
XM_017011118.1 | 2436 | Silent Mutation | AGC,AGT | S,S 706 | XP_016866607.1 | |
XM_017011119.1 | 2436 | Silent Mutation | AGC,AGT | S,S 706 | XP_016866608.1 | |
XM_017011120.1 | 2436 | Silent Mutation | AGC,AGT | S,S 706 | XP_016866609.1 | |
XM_017011121.1 | 2436 | Silent Mutation | AGC,AGT | S,S 680 | XP_016866610.1 | |
XM_017011122.1 | 2436 | Silent Mutation | AGC,AGT | S,S 680 | XP_016866611.1 |