Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCCGCATTGAGACTTATGGGGGCC[A/G]GCATCGAGCCTCTGCTCAGAGCACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611743 | ||||||||||||||||||||
Literature Links: |
PLEKHG6 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 |
PLEKHG6 - pleckstrin homology and RhoGEF domain containing G6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144856.1 | 322 | Missense Mutation | CAG,CGG | Q,R 26 | NP_001138328.1 | |
NM_001144857.1 | 322 | Intron | NP_001138329.1 | |||
NM_018173.3 | 322 | Missense Mutation | CAG,CGG | Q,R 26 | NP_060643.2 | |
XM_005253704.4 | 322 | Missense Mutation | CAG,CGG | Q,R 26 | XP_005253761.1 | |
XM_006718985.3 | 322 | Missense Mutation | CAG,CGG | Q,R 26 | XP_006719048.1 | |
XM_011520967.2 | 322 | Missense Mutation | AGC,GGC | S,G 19 | XP_011519269.1 | |
XM_017019555.1 | 322 | Missense Mutation | CAG,CGG | Q,R 26 | XP_016875044.1 |