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GACAGCAGCATCCAGCGGCGGCTGG[G/A]GAGCAACGAGAGGGAGCGGCAGCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608606 MIM: 610989 MIM: 614781 | ||||||||||||||||||||
Literature Links: |
BHLHA15 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
BHLHA15 - basic helix-loop-helix family member a15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_177455.3 | 292 | Missense Mutation | GAG,GGG | E,G 79 | NP_803238.1 |
LMTK2 - lemur tyrosine kinase 2 | ||||||
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There are no transcripts associated with this gene. |
TECPR1 - tectonin beta-propeller repeat containing 1 | ||||||
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There are no transcripts associated with this gene. |