Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607590 MIM: 123835 MIM: 606180 | |||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS7 PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | ||||||
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Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | CHB (Han Chinese)
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AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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BBS7 - Bardet-Biedl syndrome 7 | ||||||
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There are no transcripts associated with this gene. |
CCNA2 - cyclin A2 | ||||||
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There are no transcripts associated with this gene. |
EXOSC9 - exosome component 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001034194.1 | 1382 | Missense Mutation | ACT,AGT | T,S 442 | NP_001029366.1 | |
NM_005033.2 | 1382 | Missense Mutation | ACT,AGT | T,S 425 | NP_005024.2 | |
XM_011532035.2 | 1382 | Intron | XP_011530337.1 |
Set Membership: |
HapMap |