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TCTTGTTTAGGCTCAGGAGGAGGCA[G/T]GGGTGAGGAGGAGGTGACAAGTTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300560 | ||||||||||||||||||||
Literature Links: |
PHF8 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 |
PHF8 - PHD finger protein 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184896.1 | 3606 | Missense Mutation | ATG,CTG | M,L 971 | NP_001171825.1 | |
NM_001184897.1 | 3606 | Missense Mutation | ATG,CTG | M,L 834 | NP_001171826.1 | |
NM_001184898.1 | 3606 | Intron | NP_001171827.1 | |||
NM_015107.2 | 3606 | Missense Mutation | ATG,CTG | M,L 935 | NP_055922.1 | |
XM_005261996.1 | 3606 | Missense Mutation | ATG,CTG | M,L 971 | XP_005262053.1 | |
XM_005261997.3 | 3606 | Missense Mutation | ATG,CTG | M,L 935 | XP_005262054.1 | |
XM_005261999.1 | 3606 | Missense Mutation | ATG,CTG | M,L 935 | XP_005262056.1 | |
XM_005262000.1 | 3606 | Missense Mutation | ATG,CTG | M,L 870 | XP_005262057.1 | |
XM_011530778.1 | 3606 | Missense Mutation | ATG,CTG | M,L 971 | XP_011529080.1 | |
XM_017029361.1 | 3606 | Missense Mutation | ATG,CTG | M,L 935 | XP_016884850.1 | |
XM_017029362.1 | 3606 | Missense Mutation | ATG,CTG | M,L 935 | XP_016884851.1 |