Product Details

SNP ID

rs140468338

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.10:99879924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACTTTGCCCATTTCGTCCTGGTA[C/T]GGAGTAGCCAACTATTTCTGGATGC

Phenotype

MIM: 611282

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

DNMBP PubMed Links

Additional Information

For this assay, SNP(s) [rs61757225] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	4427	Missense Mutation	ATA,GTA	I1111V	NP_001305255.1
NM_001318327.1	4427	Missense Mutation	ATA,GTA	I767V	NP_001305256.1
NM_015221.3	4427	Missense Mutation	ATA,GTA	I1479V	NP_056036.1
XM_006717735.2	4427	Missense Mutation	ATA,GTA	I1436V	XP_006717798.1
XM_011539559.2	4427	Missense Mutation	ATA,GTA	I1479V	XP_011537861.1

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