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CCTCTAGTGCCTTACGAATATAAGT[C/G]AAATTTTTAACATTGCAGAACGTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601657 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCER1 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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CCER1 - coiled-coil glutamate rich protein 1 | ||||||
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There are no transcripts associated with this gene. |
EPYC - epiphycan | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004950.4 | 761 | Missense Mutation | TTC,TTG | F,L 284 | NP_004941.2 | |
XM_011538008.1 | 761 | Missense Mutation | TTC,TTG | F,L 223 | XP_011536310.1 |