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SNP ID

rs80358597

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:32316494 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGATCCAAAGAGAGGCCAACATTT[G/T]TTGAAATTTTTAAGACACGCTGCAA

Phenotype

MIM: 600185

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BRCA2 PubMed Links

Gene Details

Gene

BRCA2

Gene Name

BRCA2, DNA repair associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000059.3	261	Missense Mutation	GTT,TTT	V12F	NP_000050.2

Gene

ZAR1L

Gene Name

zygote arrest 1-like

There are no transcripts associated with this gene.

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