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CCGGTCGTCGACCCCTACGACATGC[C/T]GGGAACCAGCTACTCCACACCAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 126380 MIM: 164772 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166049.1 | 891 | Intron | NP_001159521.1 | |||
NM_001983.3 | 891 | Intron | NP_001974.1 | |||
NM_202001.2 | 891 | Intron | NP_973730.1 | |||
XM_005258634.1 | 891 | Intron | XP_005258691.1 | |||
XM_005258635.2 | 891 | Intron | XP_005258692.1 | |||
XM_005258636.4 | 891 | Intron | XP_005258693.1 | |||
XM_005258637.1 | 891 | Intron | XP_005258694.1 | |||
XM_011526610.2 | 891 | Intron | XP_011524912.1 | |||
XM_017026459.1 | 891 | Intron | XP_016881948.1 | |||
XM_017026460.1 | 891 | Intron | XP_016881949.1 | |||
XM_017026461.1 | 891 | Intron | XP_016881950.1 | |||
XM_017026462.1 | 891 | Intron | XP_016881951.1 | |||
XM_017026463.1 | 891 | Intron | XP_016881952.1 | |||
XM_017026464.1 | 891 | Intron | XP_016881953.1 | |||
XM_017026465.1 | 891 | Intron | XP_016881954.1 | |||
XM_017026466.1 | 891 | Intron | XP_016881955.1 |
FOSB - FosB proto-oncogene, AP-1 transcription factor subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114171.1 | 891 | Missense Mutation | CCG,CTG | P,L 100 | NP_001107643.1 | |
NM_006732.2 | 891 | Missense Mutation | CCG,CTG | P,L 100 | NP_006723.2 | |
XM_005258691.1 | 891 | Missense Mutation | CCG,CTG | P,L 100 | XP_005258748.1 |