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ATGGCGGGAGTGGAGCAGCCCCCGA[C/G]CCCCGAGCTGCGGCAGGAAGGCGTG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608802 | |||||||||||||||||||||||
Literature Links: |
L3MBTL1 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)
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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 |
L3MBTL1 - l(3)mbt-like 1 (Drosophila) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015478.6 | 255 | Missense Mutation | ACC,AGC | T,S 49 | NP_056293.4 | |
NM_032107.4 | 255 | Missense Mutation | ACC,AGC | T,S 117 | NP_115479.4 |
Set Membership: |
HapMap |