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TCGCTTGGGGGCGACATGTGCTCCG[C/T]CTCCCACTTTGCCCTCATCACTGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608476 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TBKBP1 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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TBKBP1 - TBK1 binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014726.2 | 965 | Missense Mutation | GCC,GTC | A,V 39 | NP_055541.1 | |
XM_005257859.4 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_005257916.1 | |
XM_005257860.4 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_005257917.1 | |
XM_005257861.4 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_005257918.1 | |
XM_005257862.3 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_005257919.1 | |
XM_017025431.1 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_016880920.1 | |
XM_017025432.1 | 965 | Missense Mutation | GCC,GTC | A,V 39 | XP_016880921.1 |