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CCCCAGGTGCTGCGGCTGCTCATCA[C/T]GGCCTGGGAGAGAAGACTCATCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602582 MIM: 604118 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DTX1 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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DTX1 - deltex E3 ubiquitin ligase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004416.2 | 2636 | Missense Mutation | ACG,ATG | T,M 553 | NP_004407.2 | |
XM_011538009.2 | 2636 | Missense Mutation | ACG,ATG | T,M 553 | XP_011536311.1 |
RASAL1 - RAS protein activator like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193520.1 | 2636 | Intron | NP_001180449.1 | |||
NM_001193521.1 | 2636 | Intron | NP_001180450.1 | |||
NM_001301202.1 | 2636 | Intron | NP_001288131.1 | |||
NM_004658.2 | 2636 | Intron | NP_004649.2 | |||
XM_005253950.4 | 2636 | UTR 3 | XP_005254007.1 | |||
XM_006719641.3 | 2636 | UTR 3 | XP_006719704.1 | |||
XM_006719642.3 | 2636 | UTR 3 | XP_006719705.1 | |||
XM_011538852.2 | 2636 | UTR 3 | XP_011537154.1 | |||
XM_011538853.2 | 2636 | UTR 3 | XP_011537155.1 | |||
XM_011538854.2 | 2636 | UTR 3 | XP_011537156.1 | |||
XM_017020028.1 | 2636 | UTR 3 | XP_016875517.1 | |||
XM_017020029.1 | 2636 | UTR 3 | XP_016875518.1 | |||
XM_017020030.1 | 2636 | UTR 3 | XP_016875519.1 | |||
XM_017020031.1 | 2636 | UTR 3 | XP_016875520.1 |