Product Details

SNP ID
rs76625876
Assay Type
Functionally tested
NCBI dbSNP Submissions
30
Location
Chr.1:6468408 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGAGTCCATGGAGCAGGAGCGGC[C/T]GTCCACCGGACCCAGGGGCAGCAGC
Phenotype
MIM: 606351 MIM: 611101 MIM: 603366
Polymorphism
C/T, 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 2580 Missense Mutation AGC,GGC S866G NP_001036128.1
NM_001042664.1 2580 Missense Mutation AGC,GGC S810G NP_001036129.1
NM_001042665.1 2580 Missense Mutation AGC,GGC S810G NP_001036130.1
NM_001265592.1 2580 Missense Mutation AGC,GGC S889G NP_001252521.1
NM_001265593.1 2580 Missense Mutation AGC,GGC S879G NP_001252522.1
NM_001265594.1 2580 Missense Mutation AGC,GGC S810G NP_001252523.1
NM_020631.4 2580 Missense Mutation AGC,GGC S810G NP_065682.2
NM_198681.3 2580 Missense Mutation AGC,GGC S887G NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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