Product Details

SNP ID
rs77246370
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:6462898 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTTGTGAGGCCAGCAGTGGCGG[G/T]ATGTGTAGGTCAGGGTGGCCCCAAG
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
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_001039664.1 786 Intron NP_001034753.1
NM_003790.2 786 Missense Mutation TAC,TCC Y224S NP_003781.1
NM_148965.1 786 Missense Mutation TAC,TCC Y233S NP_683866.1
NM_148966.1 786 Intron NP_683867.1
NM_148967.1 786 Missense Mutation TAC,TCC Y179S NP_683868.1
NM_148970.1 786 Intron NP_683871.1

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