Product Details

SNP ID
rs199562318
Assay Type
Functionally tested
NCBI dbSNP Submissions
17
Location
Chr.1:6425245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTGTCGCAGGGCGGCTGCAGAG[A/T]GCAGGTGGGTCCGCGCGGTTCGCCA
Phenotype
MIM: 606351 MIM: 609970
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ESPN PubMed Links

Gene Details

Gene
ESPN
Gene Name
espin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031475.2 470 Missense Mutation GAG,GTG E97V NP_113663.2
XM_005263501.2 470 Missense Mutation GAG,GTG E97V XP_005263558.1
XM_011542231.1 470 Missense Mutation GAG,GTG E97V XP_011540533.1
XM_011542232.1 470 Missense Mutation GAG,GTG E97V XP_011540534.1
XM_011542233.2 470 Intron XP_011540535.1
XM_011542236.2 470 Intron XP_011540538.1
XM_011542237.1 470 Missense Mutation GAG,GTG E97V XP_011540539.1
XM_011542238.2 470 Missense Mutation GAG,GTG E97V XP_011540540.1
XM_017002433.1 470 Missense Mutation GAG,GTG E97V XP_016857922.1
XM_017002434.1 470 Missense Mutation GAG,GTG E97V XP_016857923.1
Gene
HES2
Gene Name
hes family bHLH transcription factor 2
There are no transcripts associated with this gene.

Gene
MIR4252
Gene Name
microRNA 4252
There are no transcripts associated with this gene.

View Full Product Details