Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGATGTGCAGGTTGCTTTTTGTATT[C/G]TTCCTGTAGGTGATCTGCCTCTTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 607590 MIM: 123835 | ||||||||||||||||||||
Literature Links: |
BBS7 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
BBS7 - Bardet-Biedl syndrome 7 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018190.3 | 2159 | Missense Mutation | CAA,GAA | Q,E 659 | NP_060660.2 | |
NM_176824.2 | 2159 | Missense Mutation | CAA,GAA | Q,E 659 | NP_789794.1 | |
XM_005263106.3 | 2159 | Missense Mutation | CAA,GAA | Q,E 660 | XP_005263163.1 | |
XM_011532079.2 | 2159 | Missense Mutation | CAA,GAA | Q,E 675 | XP_011530381.1 | |
XM_011532080.2 | 2159 | Missense Mutation | CAA,GAA | Q,E 674 | XP_011530382.1 | |
XM_011532081.2 | 2159 | Missense Mutation | CAA,GAA | Q,E 620 | XP_011530383.1 | |
XM_017008357.1 | 2159 | Missense Mutation | CAA,GAA | Q,E 604 | XP_016863846.1 | |
XM_017008358.1 | 2159 | Missense Mutation | CAA,GAA | Q,E 605 | XP_016863847.1 |
CCNA2 - cyclin A2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |