Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAAGTCTCTTTCAAACACTCCTTTC[C/T]GGGCAAAAATGGTAGGATATAGTAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||
Phenotype: |
||||||||||||||||||||||||
Literature Links: |
EFHB PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
EFHB - EF-hand domain family member B | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144715.3 | 2035 | Missense Mutation | CAG,CGG | Q,R 760 | NP_653316.3 | |
XM_005264889.1 | 2035 | Missense Mutation | AGA,GGA | R,G 753 | XP_005264946.1 | |
XM_011533382.1 | 2035 | Missense Mutation | CAG,CGG | Q,R 739 | XP_011531684.1 | |
XM_011533383.2 | 2035 | Missense Mutation | CAG,CGG | Q,R 382 | XP_011531685.2 | |
XM_011533385.2 | 2035 | Missense Mutation | CAG,CGG | Q,R 549 | XP_011531687.1 | |
XM_017005741.1 | 2035 | Missense Mutation | CAG,CGG | Q,R 630 | XP_016861230.1 | |
XM_017005742.1 | 2035 | Intron | XP_016861231.1 | |||
XM_017005743.1 | 2035 | Missense Mutation | CAG,CGG | Q,R 382 | XP_016861232.1 | |
XM_017005744.1 | 2035 | Missense Mutation | CAG,CGG | Q,R 382 | XP_016861233.1 | |
XM_017005745.1 | 2035 | Missense Mutation | AGA,GGA | R,G 375 | XP_016861234.1 |