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TGTCCAGTTTCAGCCAGTTCCATCT[C/T]GTTGTGAACTGCTGGCAAGAGACAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614289 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SEL1L2 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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SEL1L2 - SEL1L2 ERAD E3 ligase adaptor subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271539.1 | 1797 | Silent Mutation | ACA,ACG | T,T 539 | NP_001258468.1 | |
XM_006723646.2 | 1797 | Silent Mutation | ACA,ACG | T,T 653 | XP_006723709.1 | |
XM_006723647.2 | 1797 | Silent Mutation | ACA,ACG | T,T 652 | XP_006723710.1 | |
XM_006723648.2 | 1797 | Silent Mutation | ACA,ACG | T,T 634 | XP_006723711.1 | |
XM_006723650.2 | 1797 | UTR 3 | XP_006723713.1 | |||
XM_006723651.2 | 1797 | UTR 3 | XP_006723714.1 | |||
XM_006723652.2 | 1797 | Silent Mutation | ACA,ACG | T,T 540 | XP_006723715.1 | |
XM_006723654.3 | 1797 | Silent Mutation | ACA,ACG | T,T 317 | XP_006723717.1 | |
XM_006723655.2 | 1797 | Intron | XP_006723718.1 | |||
XM_006723656.2 | 1797 | Intron | XP_006723719.1 | |||
XM_011529374.1 | 1797 | Silent Mutation | ACA,ACG | T,T 633 | XP_011527676.1 | |
XM_011529375.1 | 1797 | Silent Mutation | ACA,ACG | T,T 616 | XP_011527677.1 | |
XM_011529376.1 | 1797 | Silent Mutation | ACA,ACG | T,T 597 | XP_011527678.1 | |
XM_011529377.1 | 1797 | Silent Mutation | ACA,ACG | T,T 568 | XP_011527679.1 | |
XM_011529378.1 | 1797 | Silent Mutation | ACA,ACG | T,T 541 | XP_011527680.1 | |
XM_011529379.1 | 1797 | Silent Mutation | ACA,ACG | T,T 514 | XP_011527681.1 | |
XM_017028084.1 | 1797 | Silent Mutation | ACA,ACG | T,T 302 | XP_016883573.1 |