Product Details

SNP ID
rs201559506
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:6462896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGGCTTGTGAGGCCAGCAGTGGC[A/G]GTATGTGTAGGTCAGGGTGGCCCCA
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
There are no transcripts associated with this gene.

Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039664.1 788 Intron NP_001034753.1
NM_003790.2 788 Missense Mutation CGC,TGC R225C NP_003781.1
NM_148965.1 788 Missense Mutation CGC,TGC R234C NP_683866.1
NM_148966.1 788 Intron NP_683867.1
NM_148967.1 788 Missense Mutation CGC,TGC R180C NP_683868.1
NM_148970.1 788 Intron NP_683871.1

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