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TGACCTTTGGTGTATTTTTGAGATG[C/T]TCCCGCAGTTCATCCCTAATTTAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615186 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CWC22 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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CWC22 - CWC22 homolog, spliceosome-associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020943.2 | 2235 | Silent Mutation | GAA,GAG | E,E 645 | NP_065994.1 | |
XM_005246726.2 | 2235 | Silent Mutation | GAA,GAG | E,E 645 | XP_005246783.1 |