Product Details

SNP ID
rs79380533
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:65313521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGTCACGCGGCCGCTTTGTGCT[C/T]CCCGCCACAGCACCTGCACATCACT
Phenotype
MIM: 609292
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPRED2 PubMed Links

Gene Details

Gene
SPRED2
Gene Name
sprouty related EVH1 domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128210.1 1187 Missense Mutation AAG,GAG K410E NP_001121682.1
NM_181784.2 1187 Missense Mutation AAG,GAG K413E NP_861449.2
XM_005264200.4 1187 Intron XP_005264257.2
XM_005264201.1 1187 Missense Mutation AAG,GAG K216E XP_005264258.1
XM_005264202.4 1187 Intron XP_005264259.1
XM_017003576.1 1187 Missense Mutation AAG,GAG K290E XP_016859065.1

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