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GATGAGACTGAGACTTTGAAGAACT[C/T]TACTGATGAGGTACAGACTTCCAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604258 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
C8orf48 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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C8orf48 - chromosome 8 open reading frame 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007090.2 | 232 | Missense Mutation | TCT,TTT | S,F 28 | NP_001007091.1 |
DLC1 - DLC1 Rho GTPase activating protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164271.1 | 232 | Intron | NP_001157743.1 | |||
NM_001316668.1 | 232 | Intron | NP_001303597.1 | |||
NM_006094.4 | 232 | Intron | NP_006085.2 | |||
NM_024767.3 | 232 | Intron | NP_079043.3 | |||
NM_182643.2 | 232 | Intron | NP_872584.2 | |||
XM_005273374.1 | 232 | Intron | XP_005273431.1 | |||
XM_017012951.1 | 232 | Intron | XP_016868440.1 | |||
XM_017012952.1 | 232 | Intron | XP_016868441.1 |
Set Membership: |
HapMap |