Product Details

SNP ID
rs146409718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTCCAGGCGTGGAAGCAGCGGGT[A/G]AAGGCGTGCTGCTCATTGCCCTTGC
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 3774 Silent Mutation TTC,TTT F1243F NP_001243193.1
NM_001256265.1 3774 Silent Mutation TTC,TTT F1199F NP_001243194.1
NM_002018.3 3774 Silent Mutation TTC,TTT F1254F NP_002009.1
XM_005256555.3 3774 Silent Mutation TTC,TTT F1281F XP_005256612.1
XM_005256556.3 3774 Silent Mutation TTC,TTT F1280F XP_005256613.1
XM_005256558.2 3774 Silent Mutation TTC,TTT F1253F 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 3774 Intron NP_004131.3
XM_011523849.2 3774 Intron XP_011522151.1
XM_011523850.2 3774 Intron XP_011522152.1
XM_011523851.2 3774 Intron XP_011522153.1
XM_011523852.2 3774 Intron XP_011522154.1
XM_011523853.2 3774 Intron XP_011522155.1
XM_011523854.2 3774 Intron XP_011522156.1
XM_011523855.2 3774 Intron XP_011522157.1
XM_011523856.1 3774 Intron XP_011522158.1

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