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CTGGCCATGCGTTTTCATGTGCCTG[G/T]TGAGCTTGCTACTCTGGGCACAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606557 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BCL11A 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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BCL11A - B-cell CLL/lymphoma 11A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018014.3 | 2483 | Intron | NP_060484.2 | |||
NM_022893.3 | 2483 | Missense Mutation | AAC,ACC | N,T 786 | NP_075044.2 | |
NM_138559.1 | 2483 | Intron | NP_612569.1 | |||
XM_011532909.1 | 2483 | Missense Mutation | AAC,ACC | N,T 786 | XP_011531211.1 | |
XM_011532910.1 | 2483 | Missense Mutation | AAC,ACC | N,T 786 | XP_011531212.1 | |
XM_011532912.1 | 2483 | Missense Mutation | AAC,ACC | N,T 752 | XP_011531214.1 | |
XM_017004333.1 | 2483 | Missense Mutation | AAC,ACC | N,T 784 | XP_016859822.1 | |
XM_017004334.1 | 2483 | Missense Mutation | AAC,ACC | N,T 752 | XP_016859823.1 | |
XM_017004335.1 | 2483 | Missense Mutation | AAC,ACC | N,T 750 | XP_016859824.1 | |
XM_017004336.1 | 2483 | Missense Mutation | AAC,ACC | N,T 675 | XP_016859825.1 | |
XM_017004337.1 | 2483 | Missense Mutation | AAC,ACC | N,T 634 | XP_016859826.1 | |
XM_017004338.1 | 2483 | Missense Mutation | AAC,ACC | N,T 634 | XP_016859827.1 |