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CAGGTTGCTGCGTTGGCTGAACACC[C/T]TGCCACATACATCGCAACGGCCGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610893 MIM: 194550 MIM: 603173 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHMP2A 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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CHMP2A - charged multivesicular body protein 2A | ||||||
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There are no transcripts associated with this gene. |
MZF1 - myeloid zinc finger 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001267033.1 | 2004 | Missense Mutation | AGG,GGG | R,G 282 | NP_001253962.1 | |
NM_003422.2 | 2004 | Missense Mutation | AAG,AGG | K,R 363 | NP_003413.2 | |
NM_198055.1 | 2004 | Missense Mutation | AAG,AGG | K,R 363 | NP_932172.1 | |
XM_005259204.3 | 2004 | Missense Mutation | AAG,AGG | K,R 404 | XP_005259261.1 | |
XM_011527264.2 | 2004 | Missense Mutation | AAG,AGG | K,R 393 | XP_011525566.1 | |
XM_017027206.1 | 2004 | Missense Mutation | AAG,AGG | K,R 79 | XP_016882695.1 |
MZF1-AS1 - MZF1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
UBE2M - ubiquitin conjugating enzyme E2 M | ||||||
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There are no transcripts associated with this gene. |