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TGCTGTTGATGCGGTCGCGGCGCAT[C/T]TTCTCCACCACCGGCTTCCGCAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 607348 MIM: 606162 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HES5 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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HES5 - hes family bHLH transcription factor 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010926.3 | 159 | Silent Mutation | AAA,AAG | K,K 26 | NP_001010926.1 | |
XM_005244751.4 | 159 | Silent Mutation | AAA,AAG | K,K 26 | XP_005244808.1 |
PANK4 - pantothenate kinase 4 | ||||||
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There are no transcripts associated with this gene. |