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AACACAGGCTCTGGAGAAAGATGCT[C/T]ATCACACAGGTACTGAGATGCCGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ARL13A 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
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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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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ARL13A - ADP ribosylation factor like GTPase 13A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001162491.1 | 1457 | Missense Mutation | TCA,TTA | S,L 215 | NP_001155963.1 | |
XM_011530950.2 | 1457 | Missense Mutation | TCA,TTA | S,L 215 | XP_011529252.1 | |
XM_011530951.2 | 1457 | Intron | XP_011529253.1 |
Set Membership: |
Validated |