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ATTTTTTTAGAATATGGCAGAGCTT[A/T]CTGAGCCAGAGGGACCAGTAGATTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612723 | ||||||||||||||||||||
Literature Links: |
PLEKHH2 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 |
PLEKHH2 - pleckstrin homology, MyTH4 and FERM domain containing H2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_172069.3 | 96 | Missense Mutation | ACT,TCT | T,S 5 | NP_742066.2 | |
XM_017003351.1 | 96 | Intron | XP_016858840.1 | |||
XM_017003352.1 | 96 | Missense Mutation | ACT,TCT | T,S 5 | XP_016858841.1 | |
XM_017003353.1 | 96 | UTR 5 | XP_016858842.1 |