Product Details

SNP ID

rs80357183

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:43045685 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGTGGCTGGCTGCAGTCAGTAG[T/A]GGCTGTGGGGGATCTGGGGTATCAG

Phenotype

MIM: 113705

Polymorphism

T/A, Transversion Substitution

Allele Nomenclature

Literature Links

BRCA1 PubMed Links

Additional Information

For this assay, SNP(s) [rs3092995] are located under a primer 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

BRCA1

Gene Name

BRCA1, DNA repair associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007294.3	5880	Missense Mutation	CAC,CTC	H1862L	NP_009225.1
NM_007297.3	5880	Missense Mutation	CAC,CTC	H1815L	NP_009228.2
NM_007298.3	5880	Missense Mutation	CAC,CTC	H758L	NP_009229.2
NM_007299.3	5880	UTR 3			NP_009230.2
NM_007300.3	5880	Missense Mutation	CAC,CTC	H1883L	NP_009231.2

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