Product Details

SNP ID
rs189412837
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:99879914 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACGAGGTCTTGACTTTGCCCATTT[C/T]GTCCTGGTACGGAGTAGCCAACTAT
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 4437 Missense Mutation CAA,CGA Q1114R NP_001305255.1
NM_001318327.1 4437 Missense Mutation CAA,CGA Q770R NP_001305256.1
NM_015221.3 4437 Missense Mutation CAA,CGA Q1482R NP_056036.1
XM_006717735.2 4437 Missense Mutation CAA,CGA Q1439R XP_006717798.1
XM_011539559.2 4437 Missense Mutation CAA,CGA Q1482R XP_011537861.1

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