Product Details

SNP ID
rs184541137
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:6468379 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAAGGAGGTTGGGGAGAGGGTGCC[A/G]TAGGCAGAGTCCATGGAGCAGGAGC
Phenotype
MIM: 606351 MIM: 611101 MIM: 603366
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ESPN PubMed Links

Gene Details

Gene
ESPN
Gene Name
espin
There are no transcripts associated with this gene.

Gene
PLEKHG5
Gene Name
pleckstrin homology and RhoGEF domain containing G5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042663.1 2609 Silent Mutation TAC,TAT Y875Y NP_001036128.1
NM_001042664.1 2609 Silent Mutation TAC,TAT Y819Y NP_001036129.1
NM_001042665.1 2609 Silent Mutation TAC,TAT Y819Y NP_001036130.1
NM_001265592.1 2609 Silent Mutation TAC,TAT Y898Y NP_001252521.1
NM_001265593.1 2609 Silent Mutation TAC,TAT Y888Y NP_001252522.1
NM_001265594.1 2609 Silent Mutation TAC,TAT Y819Y NP_001252523.1
NM_020631.4 2609 Silent Mutation TAC,TAT Y819Y NP_065682.2
NM_198681.3 2609 Silent Mutation TAC,TAT Y896Y NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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