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CTCCTTCAGGAGCCCTGTGACCCAG[C/T]GGACGGGCATGCTCAGCGTGCTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611986 MIM: 610337 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MRPS24 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 - 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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MRPS24 - mitochondrial ribosomal protein S24 | ||||||
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There are no transcripts associated with this gene. |
URGCP - upregulator of cell proliferation | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077663.2 | 2507 | Missense Mutation | CAC,CGC | H,R 673 | NP_001071131.1 | |
NM_001077664.2 | 2507 | Missense Mutation | CAC,CGC | H,R 630 | NP_001071132.1 | |
NM_001290075.1 | 2507 | Missense Mutation | CAC,CGC | H,R 630 | NP_001277004.1 | |
NM_001290076.1 | 2507 | Missense Mutation | CAC,CGC | H,R 630 | NP_001277005.1 | |
NM_017920.4 | 2507 | Missense Mutation | CAC,CGC | H,R 664 | NP_060390.3 |
URGCP-MRPS24 - URGCP-MRPS24 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204871.1 | 2507 | Intron | NP_001191800.1 |