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TAGCAATGATCCCAATTTCCAGATG[C/T]CTTGTTCAACAGGTAATTCTTACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607789 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PHF3 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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PHF3 - PHD finger protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290259.1 | 593 | UTR 5 | NP_001277188.1 | |||
NM_001290260.1 | 593 | Missense Mutation | CCT,TCT | P,S 78 | NP_001277189.1 | |
NM_015153.3 | 593 | Missense Mutation | CCT,TCT | P,S 78 | NP_055968.1 | |
XM_005248701.3 | 593 | Missense Mutation | CCT,TCT | P,S 78 | XP_005248758.1 | |
XM_005248702.3 | 593 | Intron | XP_005248759.1 | |||
XM_005248703.3 | 593 | Intron | XP_005248760.1 | |||
XM_006715426.3 | 593 | Missense Mutation | CCT,TCT | P,S 78 | XP_006715489.1 | |
XM_011535648.2 | 593 | Missense Mutation | CCT,TCT | P,S 87 | XP_011533950.1 | |
XM_017010626.1 | 593 | UTR 5 | XP_016866115.1 |