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TGTTGGGTCCACTTGATGCTCTTGA[G/T]GTCAATGCCATCCTGAACCATCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604205 MIM: 603485 MIM: 607179 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CPNE1 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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CPNE1 - copine 1 | ||||||
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There are no transcripts associated with this gene. |
NFS1 - NFS1 cysteine desulfurase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198989.1 | 1269 | Missense Mutation | ATC,CTC | I,L 398 | NP_001185918.1 | |
NM_021100.4 | 1269 | Missense Mutation | ATC,CTC | I,L 449 | NP_066923.3 |
RBM12 - RNA binding motif protein 12 | ||||||
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There are no transcripts associated with this gene. |