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TGAAGACTATGGTTTTGGGACACGA[A/G]TGCAGGTCCAGCTGCTGGAGGGTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608200 MIM: 601017 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CDK5RAP1 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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CDK5RAP1 - CDK5 regulatory subunit associated protein 1 | ||||||
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There are no transcripts associated with this gene. |
SNTA1 - syntrophin alpha 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003098.2 | 1705 | Silent Mutation | CAC,CAT | H,H 480 | NP_003089.1 | |
XM_005260517.1 | 1705 | Silent Mutation | CAC,CAT | H,H 479 | XP_005260574.1 | |
XM_011529007.1 | 1705 | Missense Mutation | ACT,ATT | T,I 491 | XP_011527309.1 | |
XM_011529008.1 | 1705 | Missense Mutation | ACT,ATT | T,I 490 | XP_011527310.1 |