Product Details

SNP ID
rs114619322
Assay Type
Functionally tested
NCBI dbSNP Submissions
18
Location
Chr.1:6468009 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGCAGGTTCCCCGGCCAGGCAGC[C/G]GACTAGCCCAGGACCGCTGCCAGGG
Phenotype
MIM: 606351 MIM: 611101 MIM: 603366
Polymorphism
C/G, 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 2979 Missense Mutation CGC,GGC R999G NP_001036128.1
NM_001042664.1 2979 Missense Mutation CGC,GGC R943G NP_001036129.1
NM_001042665.1 2979 Missense Mutation CGC,GGC R943G NP_001036130.1
NM_001265592.1 2979 Missense Mutation CGC,GGC R1022G NP_001252521.1
NM_001265593.1 2979 Missense Mutation CGC,GGC R1012G NP_001252522.1
NM_001265594.1 2979 Intron NP_001252523.1
NM_020631.4 2979 Missense Mutation CGC,GGC R943G NP_065682.2
NM_198681.3 2979 Missense Mutation CGC,GGC R1020G NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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