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ACCTCCAGGTTTCCTCTGGCCTTCC[A/G]AAGGATTTTGTGGGTTACGACCACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608201 | ||||||||||||||||||||
Literature Links: |
CDK5RAP2 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 |
CDK5RAP2 - CDK5 regulatory subunit associated protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011649.2 | 5687 | Missense Mutation | CGG,TGG | R,W 1789 | NP_001011649.1 | |
NM_001272039.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1638 | NP_001258968.1 | |
NM_018249.5 | 5687 | Missense Mutation | CGG,TGG | R,W 1868 | NP_060719.4 | |
XM_006717182.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1836 | XP_006717245.1 | |
XM_006717185.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1639 | XP_006717248.1 | |
XM_011518860.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1867 | XP_011517162.1 | |
XM_017014921.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1835 | XP_016870410.1 | |
XM_017014922.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1590 | XP_016870411.1 | |
XM_017014923.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1560 | XP_016870412.1 | |
XM_017014924.1 | 5687 | Missense Mutation | CGG,TGG | R,W 1054 | XP_016870413.1 |