Product Details

SNP ID
rs138406094
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245236 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGACCAGGCGCAGCCGGCGCGGCC[A/G]CTCATGTTCCTTGGACCGCATGTGC
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 3724 Missense Mutation CGG,TGG R1227W NP_001243193.1
NM_001256265.1 3724 Missense Mutation CGG,TGG R1183W NP_001243194.1
NM_002018.3 3724 Missense Mutation CGG,TGG R1238W NP_002009.1
XM_005256555.3 3724 Missense Mutation CGG,TGG R1265W XP_005256612.1
XM_005256556.3 3724 Missense Mutation CGG,TGG R1264W XP_005256613.1
XM_005256558.2 3724 Missense Mutation CGG,TGG R1237W 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 3724 Intron NP_004131.3
XM_011523849.2 3724 Intron XP_011522151.1
XM_011523850.2 3724 Intron XP_011522152.1
XM_011523851.2 3724 Intron XP_011522153.1
XM_011523852.2 3724 Intron XP_011522154.1
XM_011523853.2 3724 Intron XP_011522155.1
XM_011523854.2 3724 Intron XP_011522156.1
XM_011523855.2 3724 Intron XP_011522157.1
XM_011523856.1 3724 Intron XP_011522158.1

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