Product Details

SNP ID
rs150133974
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:6467903 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCAGGGTCAGCTTCCTGTGCTGG[A/G]CAGAGACCCCTGGTGGGGGCTCAGG
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042663.1 3085 Missense Mutation GCC,GTC A1034V NP_001036128.1
NM_001042664.1 3085 Missense Mutation GCC,GTC A978V NP_001036129.1
NM_001042665.1 3085 Missense Mutation GCC,GTC A978V NP_001036130.1
NM_001265592.1 3085 Missense Mutation GCC,GTC A1057V NP_001252521.1
NM_001265593.1 3085 Missense Mutation GCC,GTC A1047V NP_001252522.1
NM_001265594.1 3085 Intron NP_001252523.1
NM_020631.4 3085 Missense Mutation GCC,GTC A978V NP_065682.2
NM_198681.3 3085 Missense Mutation GCC,GTC A1055V NP_941374.2
Gene
TNFRSF25
Gene Name
TNF receptor superfamily member 25
There are no transcripts associated with this gene.

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