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ACCTTGTCCGTCTTGTCTTCAGAGA[A/T]GGGATTCTGGGAAGGATCCTGGTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606272 MIM: 602836 MIM: 616484 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTNS 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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CTNS - cystinosin, lysosomal cystine transporter | ||||||
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There are no transcripts associated with this gene. |
EMC6 - ER membrane protein complex subunit 6 | ||||||
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There are no transcripts associated with this gene. |
P2RX5 - purinergic receptor P2X 5 | ||||||
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There are no transcripts associated with this gene. |
P2RX5-TAX1BP3 - P2RX5-TAX1BP3 readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
TAX1BP3 - Tax1 binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204698.1 | 289 | Missense Mutation | ATC,TTC | I,F 46 | NP_001191627.1 | |
NM_014604.3 | 289 | Missense Mutation | ATC,TTC | I,F 46 | NP_055419.1 |