Product Details

SNP ID

rs8176320

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:43044346 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGCAGTGTTAACAGCACAACATTTA[C/T]AAAACGTATTTTGTACAATCAAGTC

Phenotype

MIM: 113705

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BRCA1 PubMed Links

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	7219	UTR 3			NP_009225.1
NM_007297.3	7219	UTR 3			NP_009228.2
NM_007298.3	7219	UTR 3			NP_009229.2
NM_007299.3	7219	UTR 3			NP_009230.2
NM_007300.3	7219	UTR 3			NP_009231.2

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