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CCCTCTAGGTACAGCCTGTACACCC[A/G]CACCTGGCTCGGGTACCTCTTCTAC
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 |
---|---|---|
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 |
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 | 398 | Intron | NP_001070867.1 | |||
NM_015488.4 | 398 | Missense Mutation | CAC,CGC | H,R 85 | NP_056303.3 | |
NM_022572.4 | 398 | Missense Mutation | CAC,CGC | H,R 61 | NP_072094.1 | |
XM_017003771.1 | 398 | Missense Mutation | CAC,CGC | H,R 85 | XP_016859260.1 | |
XM_017003772.1 | 398 | Missense Mutation | CAC,CGC | H,R 61 | XP_016859261.1 |