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TTGTGAATGAGGCGTCTGGCTCGTT[A/C]CTTCTCCAGAACTCCTGTGATTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
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Literature Links: |
C1orf87 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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C1orf87 - chromosome 1 open reading frame 87 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152377.2 | 1413 | Nonsense Mutation | GAA,TAA | E,* 499 | NP_689590.1 | |
XM_017000307.1 | 1413 | Nonsense Mutation | GAA,TAA | E,* 451 | XP_016855796.1 | |
XM_017000308.1 | 1413 | Intron | XP_016855797.1 |