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GGCAGCACCCTGTCGCGCTACCTGC[C/G]GGATCTGCTGGTGGCGGCGAACCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 189971 MIM: 612478 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACTL10 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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ACTL10 - actin like 10 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001024675.1 | 1170 | Missense Mutation | CCG,CGG | P,R 57 | NP_001019846.1 |
C20orf144 - chromosome 20 open reading frame 144 | ||||||
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There are no transcripts associated with this gene. |
E2F1 - E2F transcription factor 1 | ||||||
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There are no transcripts associated with this gene. |
NECAB3 - N-terminal EF-hand calcium binding protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031231.3 | 1170 | Intron | NP_112508.3 | |||
NM_031232.3 | 1170 | Intron | NP_112509.3 | |||
XM_005260510.1 | 1170 | Intron | XP_005260567.1 | |||
XM_011528991.1 | 1170 | Intron | XP_011527293.1 | |||
XM_011528992.2 | 1170 | Intron | XP_011527294.1 | |||
XM_017028015.1 | 1170 | Intron | XP_016883504.1 | |||
XM_017028016.1 | 1170 | Intron | XP_016883505.1 |