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- SNP ID:
- rs41258306
- Gene
-
C5 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.9: 120953825 - 120953825 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GCTCAGCGTTAGTACAGGTTACCTT[C/T]TTAATGAAGGTAATCTCAGAGTCTT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 120900
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Literature Links: |
C5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| C5 - complement component 5 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001317163.1 | 4990 | Silent Mutation | AAA,AAG | K,K 1608 | NP_001304092.1 | |
| NM_001317164.1 | 4990 | Intron | NP_001304093.1 | |||
| NM_001735.2 | 4990 | Silent Mutation | AAA,AAG | K,K 1602 | NP_001726.2 | |
| XM_011518980.2 | 4990 | Silent Mutation | AAA,AAG | K,K 1607 | XP_011517282.1 | |
| XM_017015102.1 | 4990 | Silent Mutation | AAA,AAG | K,K 1607 | XP_016870591.1 | |
| XM_017015103.1 | 4990 | Silent Mutation | AAA,AAG | K,K 1486 | XP_016870592.1 | |
| XM_017015104.1 | 4990 | Intron | XP_016870593.1 | |||
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