Product Details

SNP ID
rs200162521
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:6468351 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATTGGGCCTGGGGCCACAAAGT[A/C]TTGTAAGGAGGTTGGGGAGAGGGTG
Phenotype
MIM: 606351 MIM: 611101 MIM: 603366
Polymorphism
A/C, Transversion 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 2637 Missense Mutation GAC,TAC D885Y NP_001036128.1
NM_001042664.1 2637 Missense Mutation GAC,TAC D829Y NP_001036129.1
NM_001042665.1 2637 Missense Mutation GAC,TAC D829Y NP_001036130.1
NM_001265592.1 2637 Missense Mutation GAC,TAC D908Y NP_001252521.1
NM_001265593.1 2637 Missense Mutation GAC,TAC D898Y NP_001252522.1
NM_001265594.1 2637 Missense Mutation GAC,TAC D829Y NP_001252523.1
NM_020631.4 2637 Missense Mutation GAC,TAC D829Y NP_065682.2
NM_198681.3 2637 Missense Mutation GAC,TAC D906Y NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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