Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGCCAAACCGAATGGGCTTTCCCC[A/G]AATAAATTGTTTGCACCCGTGACGA
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 |
---|---|---|
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 |
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 | 1115 | Intron | NP_000115.1 | |||
NM_001277058.1 | 1115 | Missense Mutation | CGG,TGG | R,W 755 | NP_001263987.1 | |
NM_001277059.1 | 1115 | Missense Mutation | CGG,TGG | R,W 755 | 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 | 1115 | Missense Mutation | CGG,TGG | R,W 287 | NP_736609.2 |