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GTGAGTGTGTCCTGGAGAAGTTCTC[A/G]GATTCTTCGGTTTTCCCTGAAGGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615470 MIM: 604144 | ||||||||||||||||||||
Literature Links: |
CEP89 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 |
CEP89 - centrosomal protein 89 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032816.4 | 2352 | Nonsense Mutation | CGA,TGA | R,* 733 | NP_116205.3 | |
XM_005259344.3 | 2352 | Nonsense Mutation | CGA,TGA | R,* 709 | XP_005259401.1 | |
XM_011527425.2 | 2352 | Nonsense Mutation | CGA,TGA | R,* 486 | XP_011525727.1 | |
XM_017027398.1 | 2352 | Intron | XP_016882887.1 |
SLC7A9 - solute carrier family 7 member 9 | ||||||
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There are no transcripts associated with this gene. |