Product Details

SNP ID

rs139123311

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65862462 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACAGGTAGCCCCTGGGAGTGCT[C/T]GACCCTGGCCAGCCCTCCGCTCCCT

Phenotype

MIM: 601442 MIM: 604633 MIM: 606591

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CFL1 PubMed Links

Additional Information

For this assay, SNP(s) [rs545500,rs659857] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CFL1

Gene Name

cofilin 1

There are no transcripts associated with this gene.

Gene

EFEMP2

Gene Name

EGF containing fibulin like extracellular matrix protein 2

There are no transcripts associated with this gene.

Gene

MUS81

Gene Name

MUS81 structure-specific endonuclease subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025128.4	706	Nonsense Mutation	CGA,TGA	R180*	NP_079404.3
XM_005274307.2	706	Nonsense Mutation	CGA,TGA	R180*	XP_005274364.1
XM_011545269.1	706	Nonsense Mutation	CGA,TGA	R180*	XP_011543571.1
XM_011545270.1	706	Nonsense Mutation	CGA,TGA	R180*	XP_011543572.1

Gene

SNX32

Gene Name

sorting nexin 32

There are no transcripts associated with this gene.

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