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CTGCTGGGCCACCTCCTGTTGTTCC[A/G]TGATGTCAGTCATCAGTTCATCTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610051 MIM: 603171 MIM: 610711 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHMP4A 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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CHMP4A - charged multivesicular body protein 4A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014169.3 | 789 | Missense Mutation | ACG,ATG | T,M 176 | NP_054888.2 |
MDP1 - magnesium dependent phosphatase 1 | ||||||
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There are no transcripts associated with this gene. |
NEDD8 - neural precursor cell expressed, developmentally down-regulated 8 | ||||||
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There are no transcripts associated with this gene. |
NEDD8-MDP1 - NEDD8-MDP1 readthrough | ||||||
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There are no transcripts associated with this gene. |
TSSK4 - testis specific serine kinase 4 | ||||||
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There are no transcripts associated with this gene. |