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- SNP ID:
- rs747202032
- Gene
-
C2C2-AS1CFBNELFE - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.6: 31945439 - 31945439 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
ACCTCTGAATGGCCACCCTTAGACC[C/T]TGTGATCCATCCTCTCTCCTAGCTG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613927
MIM: 138470
MIM: 154040
|
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Literature Links: |
C2 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 |
| C2 - complement component 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000063.5 | 1824 | UTR 3 | NP_000054.2 | |||
| NM_001145903.2 | 1824 | UTR 3 | NP_001139375.1 | |||
| NM_001178063.2 | 1824 | UTR 3 | NP_001171534.1 | |||
| NM_001282457.1 | 1824 | UTR 3 | NP_001269386.1 | |||
| NM_001282458.1 | 1824 | UTR 3 | NP_001269387.1 | |||
| NM_001282459.1 | 1824 | Intron | NP_001269388.1 | |||
| C2-AS1 - C2 antisense RNA 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| CFB - complement factor B | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001710.5 | 1824 | Intron | NP_001701.2 | |||
| NELFE - negative elongation factor complex member E | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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