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TCTGCCAGCTTCACCAGTTTGGCCC[C/T]GGGGCTACTGTGGGGCGCTTGCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600988 MIM: 611219 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HDDC3 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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HDDC3 - HD domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286451.1 | 369 | Missense Mutation | AGG,GGG | R,G 114 | NP_001273380.1 | |
NM_198527.3 | 369 | Missense Mutation | AGG,GGG | R,G 114 | NP_940929.1 |
MAN2A2 - mannosidase alpha class 2A member 2 | ||||||
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There are no transcripts associated with this gene. |
UNC45A - unc-45 myosin chaperone A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039675.1 | 369 | Intron | NP_001034764.1 | |||
NM_001323619.1 | 369 | Intron | NP_001310548.1 | |||
NM_001323620.1 | 369 | Intron | NP_001310549.1 | |||
NM_001323621.1 | 369 | Intron | NP_001310550.1 | |||
NM_018671.4 | 369 | Intron | NP_061141.2 | |||
XM_005254963.3 | 369 | Intron | XP_005255020.1 | |||
XM_011521779.2 | 369 | Intron | XP_011520081.1 | |||
XM_011521780.2 | 369 | Intron | XP_011520082.1 | |||
XM_017022407.1 | 369 | Intron | XP_016877896.1 |