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TCATTCAGGAAAGTTTTATGTCCTT[A/G]GAGAACCTATACAAAGGATCAAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 604950 | ||||||||||||||||||||
Literature Links: |
PHTF1 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 |
PHTF1 - putative homeodomain transcription factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323041.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 633 | NP_001309970.1 | |
NM_001323042.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 633 | NP_001309971.1 | |
NM_001323043.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 633 | NP_001309972.1 | |
NM_001323044.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 591 | NP_001309973.1 | |
NM_001323045.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 591 | NP_001309974.1 | |
NM_001323046.1 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 347 | NP_001309975.1 | |
NM_001323047.1 | 2560 | Intron | NP_001309976.1 | |||
NM_001323048.1 | 2560 | Intron | NP_001309977.1 | |||
NM_001323049.1 | 2560 | Intron | NP_001309978.1 | |||
NM_001323050.1 | 2560 | Intron | NP_001309979.1 | |||
NM_001323051.1 | 2560 | Intron | NP_001309980.1 | |||
NM_001323052.1 | 2560 | Intron | NP_001309981.1 | |||
NM_001323053.1 | 2560 | Intron | NP_001309982.1 | |||
NM_006608.2 | 2560 | Nonsense Mutation | CAA,TAA | Q,* 633 | NP_006599.2 |