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CATTTCTGGGTAGCGGGACACTGCT[C/T]GCTCAATCCTCGACGAACGCCGTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616174 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CKAP2L 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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CKAP2L - cytoskeleton associated protein 2 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304361.1 | 2163 | Missense Mutation | CAA,CGA | Q,R 530 | NP_001291290.1 | |
NM_152515.4 | 2163 | Missense Mutation | CAA,CGA | Q,R 695 | NP_689728.3 | |
XM_011510666.2 | 2163 | Missense Mutation | CAA,CGA | Q,R 530 | XP_011508968.1 |
NT5DC4 - 5'-nucleotidase domain containing 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_011512262.2 | 2163 | Intron | XP_011510564.1 | |||
XM_011512265.2 | 2163 | Intron | XP_011510567.1 | |||
XM_017005474.1 | 2163 | Intron | XP_016860963.1 | |||
XM_017005475.1 | 2163 | Intron | XP_016860964.1 | |||
XM_017005476.1 | 2163 | Intron | XP_016860965.1 | |||
XM_017005477.1 | 2163 | Intron | XP_016860966.1 | |||
XM_017005478.1 | 2163 | Intron | XP_016860967.1 |