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CAGATTCTCGCCCTCGGCCTCCCCA[A/G]GCTGGCCCTTCAGCTCCGAGCACCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613479 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AATK-AS1 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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AATK-AS1 - AATK antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
CEP131 - centrosomal protein 131 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001009811.3 | 3117 | Missense Mutation | CCT,CTT | P,L 919 | NP_001009811.2 | |
NM_001319228.1 | 3117 | Missense Mutation | CCT,CTT | P,L 958 | NP_001306157.1 | |
NM_001319229.1 | 3117 | Missense Mutation | CCT,CTT | P,L 922 | NP_001306158.1 | |
NM_014984.3 | 3117 | Missense Mutation | CCT,CTT | P,L 955 | NP_055799.2 | |
XM_011524547.2 | 3117 | Missense Mutation | CCT,CTT | P,L 963 | XP_011522849.1 | |
XM_011524548.2 | 3117 | Missense Mutation | CCT,CTT | P,L 960 | XP_011522850.1 | |
XM_011524550.2 | 3117 | Missense Mutation | CCT,CTT | P,L 957 | XP_011522852.1 | |
XM_011524551.2 | 3117 | Missense Mutation | CCT,CTT | P,L 963 | XP_011522853.1 | |
XM_011524552.2 | 3117 | Missense Mutation | CCT,CTT | P,L 927 | XP_011522854.1 | |
XM_011524553.2 | 3117 | Missense Mutation | CCT,CTT | P,L 922 | XP_011522855.1 | |
XM_011524555.2 | 3117 | Missense Mutation | CCT,CTT | P,L 963 | XP_011522857.1 | |
XM_017024369.1 | 3117 | Missense Mutation | CCT,CTT | P,L 958 | XP_016879858.1 |