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CTGTAGACGTCGGCCACGCGGCCGA[C/G]GCATACGGCCAGAGGCTTGGCCTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
MIM: 600172 MIM: 612276 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C1orf122 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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C1orf122 - chromosome 1 open reading frame 122 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142726.1 | 17 | UTR 5 | NP_001136198.1 | |||
NM_198446.2 | 17 | UTR 5 | NP_940848.2 |
MANEAL - mannosidase endo-alpha like | ||||||
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There are no transcripts associated with this gene. |
MTF1 - metal regulatory transcription factor 1 | ||||||
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There are no transcripts associated with this gene. |
YRDC - yrdC N6-threonylcarbamoyltransferase domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024640.3 | 17 | Missense Mutation | CTC,GTC | L,V 122 | NP_078916.3 |