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GCCACCGGGAGGCCTCCCTCAGGCA[C/T]GGAGATGGCCGTCTCTGGCTTCAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605377 MIM: 600963 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BHMG1 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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BHMG1 - basic helix-loop-helix and HMG-box containing 1 | ||||||
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There are no transcripts associated with this gene. |
DMPK - dystrophia myotonica protein kinase | ||||||
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There are no transcripts associated with this gene. |
SIX5 - SIX homeobox 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_175875.4 | 2178 | Missense Mutation | ATG,GTG | M,V 595 | NP_787071.2 |