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- SNP ID:
- rs148952908
- Gene
-
CCDC12 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.3: 46922094 - 46922094 on Build GRCh38
- Polymorphism:
- A/T, Transversion substitution
- Context Sequence [VIC/FAM]:
ACAGGTCTTTTGTTCGGTGGCAGCA[A/T]CCACTGCAGAGGCTAGGCTGTCTTC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CCDC12 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 |
| CCDC12 - coiled-coil domain containing 12 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001277074.1 | 499 | Missense Mutation | GAT,GTT | D,V 155 | NP_001264003.1 | |
| NM_144716.5 | 499 | Missense Mutation | GAT,GTT | D,V 168 | NP_653317.2 | |
| XM_011533390.2 | 499 | Intron | XP_011531692.1 | |||
| XM_011533391.2 | 499 | Intron | XP_011531693.1 | |||
| XM_011533392.2 | 499 | Intron | XP_011531694.1 | |||
| XM_011533393.2 | 499 | Intron | XP_011531695.1 | |||
| XM_011533394.2 | 499 | Intron | XP_011531696.1 | |||
| XM_011533396.2 | 499 | Missense Mutation | GAT,GTT | D,V 146 | XP_011531698.1 | |
Back To TopMore Information
Panther Classification:
Molecular Function -
RNA metabolism protein
RNA processing factor
RNA splicing factor
nucleic acid metabolism protein
Gene Ontology Categories:
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