Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGCCTAAGCATCATTTCCTAAAG[C/T]GCTTGAAGAGCGGGTGTACATGTTT
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 |
---|---|---|
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 |
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 | 2410 | Missense Mutation | CAC,CGC | H,R 779 | NP_000113.1 | |
NM_001303416.1 | 2410 | Missense Mutation | CAC,CGC | H,R 715 | NP_001290345.1 | |
NM_001303418.1 | 2410 | Missense Mutation | CAC,CGC | H,R 715 | NP_001290347.1 | |
XM_011510794.1 | 2410 | Missense Mutation | CAC,CGC | H,R 785 | XP_011509096.1 | |
XM_011510795.1 | 2410 | Missense Mutation | CAC,CGC | H,R 633 | XP_011509097.1 | |
XM_017003583.1 | 2410 | Missense Mutation | CAC,CGC | H,R 627 | XP_016859072.1 |