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TTTGTAAAAATTTTGTTCCACAATT[A/G]TTATAGTAAAGTATAAAACTTTTAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610683 | ||||||||||||||||||||
Literature Links: |
BBS12 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
BBS12 - Bardet-Biedl syndrome 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178007.1 | Intron | NP_001171478.1 | ||||
NM_152618.2 | Intron | NP_689831.2 | ||||
XM_011531680.2 | Intron | XP_011529982.1 | ||||
XM_017007831.1 | Intron | XP_016863320.1 |