Product Details

SNP ID

rs140641625

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:93567305 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCAGGATCCTCTCAGCATTCATC[C/T]GGTAGCTGTCTGCAGCCTCGGCCAT

Phenotype

MIM: 604704 MIM: 608848

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCAR3 PubMed Links

Gene Details

Gene

BCAR3

Gene Name

breast cancer anti-estrogen resistance 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001261408.1	2164	Missense Mutation	CAG,CGG	Q758R	NP_001248337.1
NM_001261409.1	2164	Missense Mutation	CAG,CGG	Q758R	NP_001248338.1
NM_001261410.1	2164	Missense Mutation	CAG,CGG	Q667R	NP_001248339.1
NM_001308251.1	2164	Missense Mutation	CAG,CGG	Q434R	NP_001295180.1
NM_003567.3	2164	Missense Mutation	CAG,CGG	Q758R	NP_003558.1
XM_011542251.2	2164	Missense Mutation	CAG,CGG	Q538R	XP_011540553.1
XM_017002480.1	2164	Missense Mutation	CAG,CGG	Q758R	XP_016857969.1

Gene

FNBP1L

Gene Name

formin binding protein 1 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001024948.2	2164	Intron			NP_001020119.1
NM_001164473.2	2164	Intron			NP_001157945.1
NM_017737.4	2164	Intron			NP_060207.2
XM_011541625.2	2164	Intron			XP_011539927.1
XM_017001533.1	2164	Intron			XP_016857022.1

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