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GAAGTTCACGGCATCCACACAGCAG[C/T]GGACCTCGGGGGCGGCGGCGCCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 100725 MIM: 609426 | ||||||||||||||||||||
Literature Links: |
C17orf107 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
C17orf107 - chromosome 17 open reading frame 107 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145536.1 | 1292 | Intron | NP_001139008.1 |
CHRNE - cholinergic receptor nicotinic epsilon subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000080.3 | 1292 | Missense Mutation | CAC,CGC | H,R 421 | NP_000071.1 | |
XM_017024115.1 | 1292 | Missense Mutation | CAC,CGC | H,R 409 | XP_016879604.1 |
MINK1 - misshapen like kinase 1 | ||||||
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There are no transcripts associated with this gene. |