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CCCCGTAGGCGATGGGCCCCACTGT[G/T]TGGATGACGTCTACGGGGGGCGACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610400 MIM: 608337 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MACROD1 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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MACROD1 - MACRO domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014067.3 | 1303 | Missense Mutation | CAA,CAC | Q,H 225 | NP_054786.2 | |
XM_005273939.4 | 1303 | Missense Mutation | CAA,CAC | Q,H 225 | XP_005273996.1 | |
XM_005273940.2 | 1303 | Intron | XP_005273997.1 | |||
XM_006718521.3 | 1303 | Intron | XP_006718584.1 | |||
XM_006718522.2 | 1303 | Intron | XP_006718585.1 | |||
XM_011544970.2 | 1303 | Missense Mutation | CAA,CAC | Q,H 215 | XP_011543272.1 |
OTUB1 - OTU deubiquitinase, ubiquitin aldehyde binding 1 | ||||||
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There are no transcripts associated with this gene. |