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GCCTGCCTGGGCCAGGGCCCGTCTC[C/T]GGGCCAGGCGTGACTTGCAGGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
32 submissions
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Phenotype: |
MIM: 611455 MIM: 606724 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KNCN 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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KNCN - kinocilin | ||||||
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There are no transcripts associated with this gene. |
MKNK1 - MAP kinase interacting serine/threonine kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135553.2 | 1428 | Missense Mutation | CAG,CGG | Q,R 405 | NP_001129025.1 | |
NM_003684.5 | 1428 | Missense Mutation | CAG,CGG | Q,R 446 | NP_003675.2 | |
NM_198973.3 | 1428 | UTR 3 | NP_945324.1 | |||
XM_006711000.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 405 | XP_006711063.1 | |
XM_006711001.2 | 1428 | Missense Mutation | CAG,CGG | Q,R 399 | XP_006711064.1 | |
XM_006711002.2 | 1428 | Missense Mutation | CAG,CGG | Q,R 399 | XP_006711065.1 | |
XM_006711003.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 399 | XP_006711066.1 | |
XM_006711006.3 | 1428 | Missense Mutation | CAG,CGG | Q,R 350 | XP_006711069.1 | |
XM_006711007.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 350 | XP_006711070.1 | |
XM_006711009.3 | 1428 | Missense Mutation | CAG,CGG | Q,R 350 | XP_006711072.1 | |
XM_006711013.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 310 | XP_006711076.1 | |
XM_006711014.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 310 | XP_006711077.1 | |
XM_006711015.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 310 | XP_006711078.1 | |
XM_017002652.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 408 | XP_016858141.1 | |
XM_017002653.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 408 | XP_016858142.1 | |
XM_017002654.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 408 | XP_016858143.1 | |
XM_017002655.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 393 | XP_016858144.1 | |
XM_017002656.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 393 | XP_016858145.1 | |
XM_017002657.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 350 | XP_016858146.1 | |
XM_017002658.1 | 1428 | UTR 3 | XP_016858147.1 | |||
XM_017002659.1 | 1428 | UTR 3 | XP_016858148.1 | |||
XM_017002660.1 | 1428 | UTR 3 | XP_016858149.1 | |||
XM_017002661.1 | 1428 | UTR 3 | XP_016858150.1 | |||
XM_017002662.1 | 1428 | UTR 3 | XP_016858151.1 | |||
XM_017002663.1 | 1428 | UTR 3 | XP_016858152.1 | |||
XM_017002664.1 | 1428 | Missense Mutation | CAG,CGG | Q,R 310 | XP_016858153.1 | |
XM_017002665.1 | 1428 | UTR 3 | XP_016858154.1 | |||
XM_017002666.1 | 1428 | UTR 3 | XP_016858155.1 | |||
XM_017002667.1 | 1428 | UTR 3 | XP_016858156.1 | |||
XM_017002668.1 | 1428 | Intron | XP_016858157.1 |
MKNK1-AS1 - MKNK1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |