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AGGCCGCTCACCACCGTCGGCTGCC[C/G]GGCCAGCCTCGGGCCCTGGCTCCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609475 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKAP8L 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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AKAP8L - A-kinase anchoring protein 8 like | ||||||
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There are no transcripts associated with this gene. |
WIZ - widely interspaced zinc finger motifs | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_021241.2 | 3236 | Missense Mutation | CCG,CGG | P,R 648 | NP_067064.2 | |
XM_005260004.4 | 3236 | Missense Mutation | CCG,CGG | P,R 1743 | XP_005260061.1 | |
XM_005260005.4 | 3236 | Missense Mutation | CCG,CGG | P,R 1686 | XP_005260062.1 | |
XM_005260006.4 | 3236 | Missense Mutation | CCG,CGG | P,R 1610 | XP_005260063.1 | |
XM_005260007.4 | 3236 | Missense Mutation | CCG,CGG | P,R 1553 | XP_005260064.1 | |
XM_005260008.2 | 3236 | Missense Mutation | CCG,CGG | P,R 1006 | XP_005260065.1 | |
XM_005260009.2 | 3236 | Missense Mutation | CCG,CGG | P,R 822 | XP_005260066.1 | |
XM_005260010.3 | 3236 | Missense Mutation | CCG,CGG | P,R 822 | XP_005260067.1 | |
XM_005260011.2 | 3236 | Missense Mutation | CCG,CGG | P,R 816 | XP_005260068.1 | |
XM_005260012.2 | 3236 | Missense Mutation | CCG,CGG | P,R 689 | XP_005260069.1 | |
XM_006722828.3 | 3236 | Missense Mutation | CCG,CGG | P,R 969 | XP_006722891.1 | |
XM_011528163.2 | 3236 | Missense Mutation | CCG,CGG | P,R 822 | XP_011526465.1 |