Product Details

SNP ID
rs187886272
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:6468090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCTTCCTGAGGGGAGCCCTGAG[G/T]CCTAATACCTGGGGCTGGAACAGCC
Phenotype
MIM: 606351 MIM: 611101 MIM: 603366
Polymorphism
G/T, 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 2898 Missense Mutation NP_001036128.1
NM_001042664.1 2898 Missense Mutation NP_001036129.1
NM_001042665.1 2898 Missense Mutation NP_001036130.1
NM_001265592.1 2898 Missense Mutation NP_001252521.1
NM_001265593.1 2898 Missense Mutation NP_001252522.1
NM_001265594.1 2898 Intron NP_001252523.1
NM_020631.4 2898 Missense Mutation NP_065682.2
NM_198681.3 2898 Missense Mutation NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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