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See other BRCA1 GT Assays ›
SNP ID:
rs799917
Gene
BRCA1
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.17: 43092919 - 43092919 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

TTCTGCATTTCCTGGATTTGAAAAC[A/G]GAGCAAATGACTGGCGCTTTGAAAC

Assay ID C___2287943_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 113705

Literature Links:

 BRCA1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.46)
(0.54)
Caucasian - Not Available CEPH (CEU)
A (0.34)
(0.66)
EAS
A (0.37)
(0.63)
African American - Not Available YRI (Yoruba)
C (0.07)
(0.93)
SAS
G (0.47)
(0.53)
Chinese - Not Available JPT (Japanese)
T (0.27)
(0.73)
AFR
C (0.12)
(0.88)
Japanese - Not Available CHB (Han Chinese)
A (0.31)
(0.69)
EUR
A (0.36)
(0.64)
AMR
A (0.43)
(0.57)
BRCA1 - BRCA1, DNA repair associated
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_007294.3 2844 Missense Mutation CAG,CGG Q,R 871 NP_009225.1
NM_007297.3 2844 Missense Mutation CAG,CGG Q,R 824 NP_009228.2
NM_007298.3 2844 Intron NP_009229.2
NM_007299.3 2844 Intron NP_009230.2
NM_007300.3 2844 Missense Mutation CAG,CGG Q,R 871 NP_009231.2

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More Information


Set Membership:

 HapMap

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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