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TGTTCACCAGACAAAGGCTCAGGGG[A/C]ACCAAGAGAGGTCTCTTGAGCTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300687 MIM: 300252 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ERCC6L 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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ERCC6L - ERCC excision repair 6 like, spindle assembly checkpoint helicase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017669.2 | 3623 | Missense Mutation | GCC,TCC | A,S 1176 | NP_060139.2 |
PIN4 - peptidylprolyl cis/trans isomerase, NIMA-interacting 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001170747.1 | 3623 | Intron | NP_001164218.1 | |||
NM_006223.3 | 3623 | Intron | NP_006214.2 |