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GGTCCAGGCACCGGGTCGGCCACCA[C/T]GGCTGTGGGGCCCTGCAGGCTCTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603870 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CBFA2T3 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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CBFA2T3 - CBFA2/RUNX1 translocation partner 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005187.5 | 1759 | Missense Mutation | ATG,GTG | M,V 602 | NP_005178.4 | |
NM_175931.2 | 1759 | Missense Mutation | ATG,GTG | M,V 516 | NP_787127.1 | |
XM_005256323.4 | 1759 | Missense Mutation | ATG,GTG | M,V 577 | XP_005256380.1 | |
XM_011523419.2 | 1759 | Intron | XP_011521721.1 | |||
XM_017023811.1 | 1759 | Intron | XP_016879300.1 |
LOC101927793 - uncharacterized LOC101927793 | ||||||
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There are no transcripts associated with this gene. |
PABPN1L - poly(A) binding protein nuclear 1 like (cytoplasmic) | ||||||
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There are no transcripts associated with this gene. |