Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGTGGTTCTGTTGGGCGACTTGA[A/G]CATGGTGACACAGCCGCACCTGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 134350 MIM: 604062 | ||||||||||||||||||||
Literature Links: |
CFD 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 |
CFD - complement factor D | ||||||
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There are no transcripts associated with this gene. |
MED16 - mediator complex subunit 16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005481.2 | 2570 | Missense Mutation | CTC,TTC | L,F 807 | NP_005472.2 | |
XM_017026120.1 | 2570 | Missense Mutation | CTC,TTC | L,F 738 | XP_016881609.1 | |
XM_017026121.1 | 2570 | Missense Mutation | CTC,TTC | L,F 632 | XP_016881610.1 |