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GCCTTCCGAAGGATTTTGTGGGTTA[C/T]GACCACTGAGGAGAGAGCAAAGAAT
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 | |||
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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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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 | 5669 | Missense Mutation | ATA,GTA | I,V 1783 | NP_001011649.1 | |
NM_001272039.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1632 | NP_001258968.1 | |
NM_018249.5 | 5669 | Missense Mutation | ATA,GTA | I,V 1862 | NP_060719.4 | |
XM_006717182.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1830 | XP_006717245.1 | |
XM_006717185.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1633 | XP_006717248.1 | |
XM_011518860.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1861 | XP_011517162.1 | |
XM_017014921.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1829 | XP_016870410.1 | |
XM_017014922.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1584 | XP_016870411.1 | |
XM_017014923.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1554 | XP_016870412.1 | |
XM_017014924.1 | 5669 | Missense Mutation | ATA,GTA | I,V 1048 | XP_016870413.1 |