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AGCCCTTTGCTGCGGTAAATGCTCT[A/C]GCTCAGACAGTGCAGCTTGAGCTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601592 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RAPSN 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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RAPSN - receptor associated protein of the synapse | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005055.4 | 1211 | Missense Mutation | AAG,CAG | K,Q 333 | NP_005046.2 | |
NM_032645.4 | 1211 | Missense Mutation | AAG,CAG | K,Q 274 | NP_116034.2 | |
XM_005253042.3 | 1211 | Nonsense Mutation | AAG,CAG | K,Q 315 | XP_005253099.1 | |
XM_005253043.3 | 1211 | Nonsense Mutation | AAG,CAG | K,Q 292 | XP_005253100.1 | |
XM_011520252.1 | 1211 | Missense Mutation | CAA,CCA | Q,P 361 | XP_011518554.1 |