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ACAACAGCCAACAGAGCAATGAGCA[C/G]ACAGACCCAGAGCCAGAGGAAAATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606151 MIM: 615857 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS2 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) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BBS2 - Bardet-Biedl syndrome 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031885.3 | 1416 | Intron | NP_114091.3 | |||
XM_005256080.2 | 1416 | Intron | XP_005256137.1 |
OGFOD1 - 2-oxoglutarate and iron dependent oxygenase domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324357.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 415 | NP_001311286.1 | |
NM_001324358.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 361 | NP_001311287.1 | |
NM_001324359.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 319 | NP_001311288.1 | |
NM_001324360.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 319 | NP_001311289.1 | |
NM_001324361.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 361 | NP_001311290.1 | |
NM_001324362.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 276 | NP_001311291.1 | |
NM_001324363.1 | 1416 | Missense Mutation | CAC,CAG | H,Q 378 | NP_001311292.1 | |
NM_018233.3 | 1416 | Missense Mutation | CAC,CAG | H,Q 416 | NP_060703.3 |