Product Details

SNP ID
rs199968530
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:99879891 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCTGTTCTTGCACATCCTTTGA[C/T]GAGGTCTTGACTTTGCCCATTTCGT
Phenotype
MIM: 611282
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DNMBP PubMed Links

Gene Details

Gene
DNMBP
Gene Name
dynamin binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318326.1 4460 Missense Mutation ATC,GTC I1122V NP_001305255.1
NM_001318327.1 4460 Missense Mutation ATC,GTC I778V NP_001305256.1
NM_015221.3 4460 Missense Mutation ATC,GTC I1490V NP_056036.1
XM_006717735.2 4460 Missense Mutation ATC,GTC I1447V XP_006717798.1
XM_011539559.2 4460 Missense Mutation ATC,GTC I1490V XP_011537861.1

View Full Product Details