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GGTGTCACACTCACCTGGTGCTGCC[A/G]GTACAGCAGGGGGATGGTGAATAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 126380 MIM: 603183 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERCC1 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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ERCC1 - ERCC excision repair 1, endonuclease non-catalytic subunit | ||||||
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There are no transcripts associated with this gene. |
PPM1N - protein phosphatase, Mg2+/Mn2+ dependent 1N (putative) | ||||||
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There are no transcripts associated with this gene. |
RTN2 - reticulon 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005619.4 | 1716 | Missense Mutation | CGG,TGG | R,W 496 | NP_005610.1 | |
NM_206900.2 | 1716 | Missense Mutation | CGG,TGG | R,W 423 | NP_996783.1 | |
NM_206901.2 | 1716 | Missense Mutation | CGG,TGG | R,W 156 | NP_996784.1 |