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CCTGAACAACCCACACCCACAATTC[A/G]GGAAGAGCCTGAACCTGTTAGCAAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609835 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MYCBPAP 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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MYCBPAP - MYCBP associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032133.4 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | NP_115509.4 | |
XM_005257725.3 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | XP_005257782.1 | |
XM_005257726.2 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | XP_005257783.1 | |
XM_011525342.1 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | XP_011523644.1 | |
XM_011525343.1 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | XP_011523645.1 | |
XM_017025205.1 | 256 | Missense Mutation | CAG,CGG | Q,R 84 | XP_016880694.1 |