Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGCTTCCATCTCTGATCCATCGTC[A/G]GGGCATTGACATTGAACCCGTGACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 133520 | ||||||||||||||||||||
Literature Links: |
ERCC4 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 |
ERCC4 - ERCC excision repair 4, endonuclease catalytic subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005236.2 | 1251 | Missense Mutation | CAG,CGG | Q,R 702 | NP_005227.1 | |
XM_011522424.2 | 1251 | Missense Mutation | CAG,CGG | Q,R 748 | XP_011520726.1 | |
XM_011522427.1 | 1251 | Missense Mutation | CAG,CGG | Q,R 252 | XP_011520729.1 | |
XM_017023043.1 | 1251 | Missense Mutation | CAG,CGG | Q,R 439 | XP_016878532.1 |