Product Details

SNP ID

rs200045829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61867944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCATACAATGGAGGAAATGCTC[A/G]ACAAAAAGAGACCAAACTTGGCAGA

Phenotype

MIM: 605882 MIM: 611346

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BRIP1 PubMed Links

Gene Details

Gene

BRIP1

Gene Name

BRCA1 interacting protein C-terminal helicase 1

There are no transcripts associated with this gene.

Gene

INTS2

Gene Name

integrator complex subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020748.2	3417	Nonsense Mutation	CGA,TGA	R1112*	NP_065799.1
XM_006721987.3	3417	Nonsense Mutation	CGA,TGA	R1104*	XP_006722050.1
XM_011525058.2	3417	Nonsense Mutation	CGA,TGA	R1104*	XP_011523360.1

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