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AGATGCCTCCCCTAGGGGGTTCACC[A/G]CCTTGCAGGTATAGATGCCTCCATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
8 submissions
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Phenotype: |
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Literature Links: |
MYBPHL 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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MYBPHL - myosin binding protein H like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010985.2 | 3407 | Missense Mutation | NP_001010985.2 | |||
NM_001265613.1 | 3407 | Missense Mutation | NP_001252542.1 | |||
XM_017001173.1 | 3407 | Missense Mutation | XP_016856662.1 | |||
XM_017001174.1 | 3407 | Missense Mutation | XP_016856663.1 | |||
XM_017001175.1 | 3407 | Missense Mutation | XP_016856664.1 |