Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 133510 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERCC3 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 | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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ERCC3 - ERCC excision repair 3, TFIIH core complex helicase subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000122.1 | 2185 | Missense Mutation | TCG,TTG | S,L 704 | NP_000113.1 | |
NM_001303416.1 | 2185 | Missense Mutation | TCG,TTG | S,L 640 | NP_001290345.1 | |
NM_001303418.1 | 2185 | Missense Mutation | TCG,TTG | S,L 640 | NP_001290347.1 | |
XM_011510794.1 | 2185 | Missense Mutation | TCG,TTG | S,L 710 | XP_011509096.1 | |
XM_011510795.1 | 2185 | Missense Mutation | TCG,TTG | S,L 558 | XP_011509097.1 | |
XM_017003583.1 | 2185 | Missense Mutation | TCG,TTG | S,L 552 | XP_016859072.1 |
Set Membership: |
HapMap |