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TTTCTTTCTTGCAGAAAACATGCTT[T/A]AAACTGCCACAGAATGAAGCCTGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
|
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Phenotype: |
MIM: 176310 | ||||||||||||||||||||
Literature Links: |
PBX1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
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 |
PBX1 - PBX homeobox 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204961.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | NP_001191890.1 | |
NM_001204963.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | NP_001191892.1 | |
NM_002585.3 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | NP_002576.1 | |
XM_005245228.3 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_005245285.1 | |
XM_005245229.3 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_005245286.1 | |
XM_011509590.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_011507892.1 | |
XM_011509591.2 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_011507893.1 | |
XM_011509592.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_011507894.1 | |
XM_017001395.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_016856884.1 | |
XM_017001396.1 | 666 | Nonsense Mutation | TAA,TTA | *,L 68 | XP_016856885.1 |