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GGAGGGAACCGTGACCTCAGCCGGC[A/G]GCACCGGGACTGTCGGGTGTACGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609023 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CATIP-AS2 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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CATIP-AS2 - CATIP antisense RNA 2 | ||||||
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There are no transcripts associated with this gene. |
MIR6810 - microRNA 6810 | ||||||
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There are no transcripts associated with this gene. |
PNKD - paroxysmal nonkinesigenic dyskinesia | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077399.2 | 704 | Intron | NP_001070867.1 | |||
NM_015488.4 | 704 | Missense Mutation | CAG,CGG | Q,R 187 | NP_056303.3 | |
NM_022572.4 | 704 | Missense Mutation | CAG,CGG | Q,R 163 | NP_072094.1 | |
XM_017003771.1 | 704 | Missense Mutation | CAG,CGG | Q,R 187 | XP_016859260.1 | |
XM_017003772.1 | 704 | Missense Mutation | CAG,CGG | Q,R 163 | XP_016859261.1 |