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TTAAAACCTTCAAATGAACTAACCA[G/A]TTCAACTGTAGTAATTGACACACAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611569 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CKAP2 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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CKAP2 - cytoskeleton associated protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098525.2 | 526 | Missense Mutation | AAT,AGT | N,S 111 | NP_001091995.1 | |
NM_001286686.1 | 526 | Missense Mutation | AAT,AGT | N,S 62 | NP_001273615.1 | |
NM_001286687.1 | 526 | Missense Mutation | AAT,AGT | N,S 110 | NP_001273616.1 | |
NM_018204.4 | 526 | Missense Mutation | AAT,AGT | N,S 110 | NP_060674.3 | |
XM_005266344.4 | 526 | Missense Mutation | AAT,AGT | N,S 63 | XP_005266401.1 | |
XM_011535043.2 | 526 | Missense Mutation | AAT,AGT | N,S 28 | XP_011533345.1 |