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TCTGTCCTGGTCCTCACCAGTGCTC[A/G]TGGCTTCTTCTCATCTTTCCCCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C14orf105 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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C14orf105 - chromosome 14 open reading frame 105 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001283056.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 316 | NP_001269985.1 | |
NM_001283057.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 275 | NP_001269986.1 | |
NM_001283058.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 187 | NP_001269987.1 | |
NM_001283059.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 187 | NP_001269988.1 | |
NM_001283060.1 | 1094 | Intron | NP_001269989.1 | |||
NM_018168.3 | 1094 | Nonsense Mutation | CGA,TGA | R,* 276 | NP_060638.2 | |
XM_005267806.1 | 1094 | Intron | XP_005267863.1 | |||
XM_005267810.3 | 1094 | Nonsense Mutation | CGA,TGA | R,* 197 | XP_005267867.1 | |
XM_005267811.3 | 1094 | Nonsense Mutation | CGA,TGA | R,* 188 | XP_005267868.1 | |
XM_005267813.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 150 | XP_005267870.1 | |
XM_005267814.1 | 1094 | Nonsense Mutation | CGA,TGA | R,* 149 | XP_005267871.1 | |
XM_006720188.2 | 1094 | Intron | XP_006720251.1 | |||
XM_006720189.2 | 1094 | Nonsense Mutation | CGA,TGA | R,* 198 | XP_006720252.1 |