Product Details

SNP ID
rs141265661
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCCAGGTCATCTTGGCAAAAGT[C/T]GGAGCATTTCTCAGTCACTGCAAAG
Phenotype
MIM: 600362 MIM: 600966
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FLII PubMed Links

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 3562 Missense Mutation NP_001243193.1
NM_001256265.1 3562 Missense Mutation NP_001243194.1
NM_002018.3 3562 Missense Mutation NP_002009.1
XM_005256555.3 3562 Missense Mutation XP_005256612.1
XM_005256556.3 3562 Missense Mutation XP_005256613.1
XM_005256558.2 3562 Missense Mutation 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 3562 Intron NP_004131.3
XM_011523849.2 3562 Intron XP_011522151.1
XM_011523850.2 3562 Intron XP_011522152.1
XM_011523851.2 3562 Intron XP_011522153.1
XM_011523852.2 3562 Intron XP_011522154.1
XM_011523853.2 3562 Intron XP_011522155.1
XM_011523854.2 3562 Intron XP_011522156.1
XM_011523855.2 3562 Intron XP_011522157.1
XM_011523856.1 3562 Intron XP_011522158.1

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