Product Details

SNP ID
rs144058499
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245227 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCCCTTGCGGACCAGGCGCAGCC[A/G]GCGCGGCCGCTCATGTTCCTTGGAC
Phenotype
MIM: 600362 MIM: 600966
Polymorphism
A/G, 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 3733 Missense Mutation CGG,TGG R1230W NP_001243193.1
NM_001256265.1 3733 Missense Mutation CGG,TGG R1186W NP_001243194.1
NM_002018.3 3733 Missense Mutation CGG,TGG R1241W NP_002009.1
XM_005256555.3 3733 Missense Mutation CGG,TGG R1268W XP_005256612.1
XM_005256556.3 3733 Missense Mutation CGG,TGG R1267W XP_005256613.1
XM_005256558.2 3733 Missense Mutation CGG,TGG R1240W 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 3733 Intron NP_004131.3
XM_011523849.2 3733 Intron XP_011522151.1
XM_011523850.2 3733 Intron XP_011522152.1
XM_011523851.2 3733 Intron XP_011522153.1
XM_011523852.2 3733 Intron XP_011522154.1
XM_011523853.2 3733 Intron XP_011522155.1
XM_011523854.2 3733 Intron XP_011522156.1
XM_011523855.2 3733 Intron XP_011522157.1
XM_011523856.1 3733 Intron XP_011522158.1

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