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CTGTGTCTCACCCTGGTGTCTAGAA[G/T]AAAGCAGCGTGGGCAGCAGTGGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611780 | ||||||||||||||||||||
Literature Links: |
LOC143666 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 |
LOC143666 - uncharacterized LOC143666 | ||||||
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There are no transcripts associated with this gene. |
PHRF1 - PHD and ring finger domains 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286581.1 | 265 | Nonsense Mutation | GAA,TAA | E,* 33 | NP_001273510.1 | |
NM_001286582.1 | 265 | Intron | NP_001273511.1 | |||
NM_001286583.1 | 265 | Intron | NP_001273512.1 | |||
NM_020901.3 | 265 | Nonsense Mutation | GAA,TAA | E,* 33 | NP_065952.2 | |
XM_005253025.4 | 265 | Intron | XP_005253082.1 | |||
XM_005253027.3 | 265 | Nonsense Mutation | GAA,TAA | E,* 30 | XP_005253084.1 | |
XM_011520236.2 | 265 | Nonsense Mutation | GAA,TAA | E,* 33 | XP_011518538.1 | |
XM_011520237.2 | 265 | Intron | XP_011518539.1 |