Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 134350 MIM: 130130 MIM: 604062 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFD PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
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
|
|||||
AMR
|
CFD - complement factor D | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317335.1 | 460 | Silent Mutation | GCA,GCG | A,A 150 | NP_001304264.1 | |
NM_001928.3 | 460 | Silent Mutation | GCA,GCG | A,A 143 | NP_001919.2 |
ELANE - elastase, neutrophil expressed | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MED16 - mediator complex subunit 16 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |