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AGGACGACGAGGAGGATGAGATGGA[A/G]GAGGACGACGATGACTCCGATTATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601819 | ||||||||||||||||||||
Literature Links: |
BPTF 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 |
BPTF - bromodomain PHD finger transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004459.6 | 709 | Silent Mutation | GAA,GAG | E,E 167 | NP_004450.3 | |
NM_182641.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | NP_872579.2 | |
XM_005257150.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257207.1 | |
XM_005257151.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257208.1 | |
XM_005257152.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257209.1 | |
XM_005257153.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257210.1 | |
XM_005257154.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257211.1 | |
XM_005257155.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257212.1 | |
XM_005257156.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257213.1 | |
XM_005257157.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257214.1 | |
XM_005257158.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257215.1 | |
XM_005257159.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257216.1 | |
XM_005257160.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257217.1 | |
XM_005257161.3 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_005257218.1 | |
XM_011524520.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522822.1 | |
XM_011524521.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522823.1 | |
XM_011524522.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522824.1 | |
XM_011524523.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522825.1 | |
XM_011524524.2 | 709 | Intron | XP_011522826.1 | |||
XM_011524525.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522827.1 | |
XM_011524526.2 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_011522828.1 | |
XM_017024353.1 | 709 | Silent Mutation | GAA,GAG | E,E 167 | XP_016879842.1 | |
XM_017024354.1 | 709 | Intron | XP_016879843.1 |