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TAAATGCTGCATTTTTATAATTCAC[A/G]ATAGCAACAAAACATGACAATTATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607590 MIM: 123835 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BBS7 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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BBS7 - Bardet-Biedl syndrome 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018190.3 | 2554 | UTR 3 | NP_060660.2 | |||
NM_176824.2 | 2554 | Intron | NP_789794.1 | |||
XM_005263106.3 | 2554 | Intron | XP_005263163.1 | |||
XM_011532079.2 | 2554 | Intron | XP_011530381.1 | |||
XM_011532080.2 | 2554 | Intron | XP_011530382.1 | |||
XM_011532081.2 | 2554 | Intron | XP_011530383.1 | |||
XM_017008357.1 | 2554 | Intron | XP_016863846.1 | |||
XM_017008358.1 | 2554 | UTR 3 | XP_016863847.1 |
CCNA2 - cyclin A2 | ||||||
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There are no transcripts associated with this gene. |