Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACTCTTCCGATAGGAGACCTCACAG[C/G]CTAGGCCTTGGGATCCAACAGGACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 120960 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C8B 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
|
C8B - complement component 8, beta polypeptide | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000066.3 | 1790 | Missense Mutation | GCC,GGC | A,G 533 | NP_000057.2 | |
NM_001278543.1 | 1790 | Missense Mutation | GCC,GGC | A,G 481 | NP_001265472.1 | |
NM_001278544.1 | 1790 | Missense Mutation | GCC,GGC | A,G 471 | NP_001265473.1 | |
XM_017002235.1 | 1790 | Missense Mutation | GCC,GGC | A,G 533 | XP_016857724.1 |