Product Details

SNP ID

rs1048171

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:214725885 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CATGAACGTTTAGAATATGATTAAT[C/G]CATTTTCCACACTGACCCATGGAAA

Phenotype

MIM: 601593

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

BARD1 PubMed Links

Additional Information

For this assay, SNP(s) [rs80043015] 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

BARD1

Gene Name

BRCA1 associated RING domain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000465.3	3728	UTR 3			NP_000456.2
NM_001282543.1	3728	UTR 3			NP_001269472.1
NM_001282545.1	3728	UTR 3			NP_001269474.1
NM_001282548.1	3728	UTR 3			NP_001269477.1
NM_001282549.1	3728	UTR 3			NP_001269478.1
XM_017004613.1	3728	UTR 3			XP_016860102.1
XM_017004614.1	3728	Intron			XP_016860103.1

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