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CGTACACCCTTGAAAGGCGTACTAG[C/T]GTTTCGCAGATCCAGCAGGTAGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 616472 | ||||||||||||||||||||
Literature Links: |
C1orf189 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 |
C1orf189 - chromosome 1 open reading frame 189 | ||||||
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There are no transcripts associated with this gene. |
C1orf43 - chromosome 1 open reading frame 43 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098616.2 | 760 | Missense Mutation | ACT,GCT | T,A 142 | NP_001092086.1 | |
NM_001297717.1 | 760 | Missense Mutation | ACT,GCT | T,A 124 | NP_001284646.1 | |
NM_001297718.1 | 760 | Missense Mutation | ACT,GCT | T,A 107 | NP_001284647.1 | |
NM_001297720.1 | 760 | Missense Mutation | ACT,GCT | T,A 124 | NP_001284649.1 | |
NM_001297721.1 | 760 | Missense Mutation | ACT,GCT | T,A 108 | NP_001284650.1 | |
NM_001297723.1 | 760 | Missense Mutation | ACT,GCT | T,A 142 | NP_001284652.1 | |
NM_015449.3 | 760 | Missense Mutation | ACT,GCT | T,A 108 | NP_056264.1 | |
NM_138740.3 | 760 | Missense Mutation | ACT,GCT | T,A 90 | NP_620077.1 |
UBAP2L - ubiquitin associated protein 2 like | ||||||
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There are no transcripts associated with this gene. |