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ACGACCAAGACCCGGGACTGGGCCC[A/G]GGCGCAGACCCAGGCCCAGGCCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
26 submissions
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Phenotype: |
MIM: 601914 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PRELP 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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PRELP - proline and arginine rich end leucine rich repeat protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002725.3 | 297 | Missense Mutation | AGG,GGG | R,G 33 | NP_002716.1 | |
NM_201348.1 | 297 | Missense Mutation | AGG,GGG | R,G 33 | NP_958505.1 |