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TTTGGGAATGCCTAAAAGTGCATTA[A/G]CTATTATCATACTAACCATGGTTTC
Species: |
Human | ||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610148 MIM: 606736 | ||||||||||||||||||||||||||
Literature Links: |
BBS10 PubMed Links | ||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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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)
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EUR - Not Available | |||||
AMR - Not Available |
BBS10 - Bardet-Biedl syndrome 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024685.3 | 1985 | Missense Mutation | GCT,GTT | A,V 634 | NP_078961.3 |
OSBPL8 - oxysterol binding protein like 8 | ||||||
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There are no transcripts associated with this gene. |