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CCCAGGATTAAGTTCTCACCTTGAC[A/G]CAGCTTGTGAATTTCAACTCTTTGC
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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 217 | Missense Mutation | CGT,TGT | R,C 22 | NP_001191627.1 | |
NM_014604.3 | 217 | Missense Mutation | CGT,TGT | R,C 22 | NP_055419.1 |