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AGGCCCGGGCGCTGGCTGGGAGGGG[A/G]GGTGTCTGGCAGGTCTTGGCATGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605785 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PLEKHH3 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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PLEKHH3 - pleckstrin homology, MyTH4 and FERM domain containing H3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024927.4 | 2611 | Missense Mutation | CCC,TCC | P,S 770 | NP_079203.3 | |
XM_017025113.1 | 2611 | Missense Mutation | CCC,TCC | P,S 859 | XP_016880602.1 | |
XM_017025114.1 | 2611 | Missense Mutation | CCC,TCC | P,S 856 | XP_016880603.1 | |
XM_017025115.1 | 2611 | Missense Mutation | CCC,TCC | P,S 815 | XP_016880604.1 | |
XM_017025116.1 | 2611 | Missense Mutation | CCC,TCC | P,S 814 | XP_016880605.1 | |
XM_017025117.1 | 2611 | Missense Mutation | CCC,TCC | P,S 799 | XP_016880606.1 | |
XM_017025118.1 | 2611 | Missense Mutation | CCC,TCC | P,S 767 | XP_016880607.1 |
TUBG2 - tubulin gamma 2 | ||||||
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There are no transcripts associated with this gene. |