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GGCCAGGGTCAGCTTCCTGTGCTGG[A/G]CAGAGACCCCTGGTGGGGGCTCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
1 submissions
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Phenotype: |
MIM: 606351 MIM: 611101 MIM: 603366 | ||||||||||||||||||||
Literature Links: |
ESPN 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 |
ESPN - espin | ||||||
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There are no transcripts associated with this gene. |
PLEKHG5 - pleckstrin homology and RhoGEF domain containing G5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042663.1 | 3085 | Missense Mutation | GCC,GTC | A,V 1034 | NP_001036128.1 | |
NM_001042664.1 | 3085 | Missense Mutation | GCC,GTC | A,V 978 | NP_001036129.1 | |
NM_001042665.1 | 3085 | Missense Mutation | GCC,GTC | A,V 978 | NP_001036130.1 | |
NM_001265592.1 | 3085 | Missense Mutation | GCC,GTC | A,V 1057 | NP_001252521.1 | |
NM_001265593.1 | 3085 | Missense Mutation | GCC,GTC | A,V 1047 | NP_001252522.1 | |
NM_001265594.1 | 3085 | Intron | NP_001252523.1 | |||
NM_020631.4 | 3085 | Missense Mutation | GCC,GTC | A,V 978 | NP_065682.2 | |
NM_198681.3 | 3085 | Missense Mutation | GCC,GTC | A,V 1055 | NP_941374.2 |
TNFRSF25 - TNF receptor superfamily member 25 | ||||||
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There are no transcripts associated with this gene. |