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GAGGCAGTCCCCTGATGTGCAGCCT[C/G]GGCTGCAAACCTGGCCACATGGTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604205 MIM: 603038 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198863.1 | 1407 | Missense Mutation | CAG,GAG | Q,E 404 | NP_001185792.1 | |
NM_003915.5 | 1407 | Missense Mutation | CAG,GAG | Q,E 409 | NP_003906.2 | |
NM_152925.2 | 1407 | Missense Mutation | CAG,GAG | Q,E 404 | NP_690902.1 | |
NM_152926.2 | 1407 | Missense Mutation | CAG,GAG | Q,E 404 | NP_690903.1 | |
NM_152927.2 | 1407 | Missense Mutation | CAG,GAG | Q,E 404 | NP_690904.1 | |
NM_152928.2 | 1407 | Missense Mutation | CAG,GAG | Q,E 404 | NP_690905.1 |
SPAG4 - sperm associated antigen 4 | ||||||
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There are no transcripts associated with this gene. |