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TCATTTCCTAAAGCGCTTGAAGAGC[A/G]GGTGTACATGTTTGCTGGGCGCCTT
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) - 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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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 | 2398 | Missense Mutation | CCG,CTG | P,L 775 | NP_000113.1 | |
NM_001303416.1 | 2398 | Missense Mutation | CCG,CTG | P,L 711 | NP_001290345.1 | |
NM_001303418.1 | 2398 | Missense Mutation | CCG,CTG | P,L 711 | NP_001290347.1 | |
XM_011510794.1 | 2398 | Missense Mutation | CCG,CTG | P,L 781 | XP_011509096.1 | |
XM_011510795.1 | 2398 | Missense Mutation | CCG,CTG | P,L 629 | XP_011509097.1 | |
XM_017003583.1 | 2398 | Missense Mutation | CCG,CTG | P,L 623 | XP_016859072.1 |