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GAGGCCGCCCCCAGAGAGCATCAGG[A/T]TGGCTGAGGTCAGGAGTCAGCGCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CFAP58 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) - 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 |
CFAP58 - cilia and flagella associated protein 58 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008723.1 | 124 | Missense Mutation | ATG,TTG | M,L 1 | NP_001008723.1 | |
XM_011539377.2 | 124 | Intron | XP_011537679.1 | |||
XM_017015787.1 | 124 | Intron | XP_016871276.1 | |||
XM_017015788.1 | 124 | Intron | XP_016871277.1 | |||
XM_017015789.1 | 124 | Missense Mutation | ATG,TTG | M,L 1 | XP_016871278.1 | |
XM_017015790.1 | 124 | Missense Mutation | ATG,TTG | M,L 1 | XP_016871279.1 |
CFAP58-AS1 - CFAP58 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |