Product Details

SNP ID

rs201341928

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18245170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTTGCAGAAGGCGCTCCAGG[C/T]GTGGAAGCAGCGGGTAAAGGCGTGC

Phenotype

MIM: 600362 MIM: 600966

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

FLII PubMed Links

Additional Information

For this assay, SNP(s) [rs7498] 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

FLII

Gene Name

FLII, actin remodeling protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256264.1	3790	Missense Mutation	ACC,GCC	T1249A	NP_001243193.1
NM_001256265.1	3790	Missense Mutation	ACC,GCC	T1205A	NP_001243194.1
NM_002018.3	3790	Missense Mutation	ACC,GCC	T1260A	NP_002009.1
XM_005256555.3	3790	Missense Mutation	ACC,GCC	T1287A	XP_005256612.1
XM_005256556.3	3790	Missense Mutation	ACC,GCC	T1286A	XP_005256613.1
XM_005256558.2	3790	Missense Mutation	ACC,GCC	T1259A	XP_005256615.1

Gene

LLGL1

Gene Name

LLGL1, scribble cell polarity complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004140.3	3790	Intron			NP_004131.3
XM_011523849.2	3790	Intron			XP_011522151.1
XM_011523850.2	3790	Intron			XP_011522152.1
XM_011523851.2	3790	Intron			XP_011522153.1
XM_011523852.2	3790	Intron			XP_011522154.1
XM_011523853.2	3790	Intron			XP_011522155.1
XM_011523854.2	3790	Intron			XP_011522156.1
XM_011523855.2	3790	Intron			XP_011522157.1
XM_011523856.1	3790	Intron			XP_011522158.1

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