Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609413 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERCC6 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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ERCC6 - ERCC excision repair 6, chromatin remodeling factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000124.3 | 1401 | Intron | NP_000115.1 | |||
NM_001277058.1 | 1401 | Missense Mutation | AAA,AGA | K,R 850 | NP_001263987.1 | |
NM_001277059.1 | 1401 | Missense Mutation | AAA,AGA | K,R 850 | NP_001263988.1 |
PGBD3 - piggyBac transposable element derived 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_170753.3 | 1401 | Missense Mutation | AAA,AGA | K,R 382 | NP_736609.2 |