Product Details

SNP ID
rs147081178
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGCGGACCAGGCGCAGCCGGCG[C/T]GGCCGCTCATGTTCCTTGGACCGCA
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 3729 Silent Mutation CCA,CCG P1228P NP_001243193.1
NM_001256265.1 3729 Silent Mutation CCA,CCG P1184P NP_001243194.1
NM_002018.3 3729 Silent Mutation CCA,CCG P1239P NP_002009.1
XM_005256555.3 3729 Silent Mutation CCA,CCG P1266P XP_005256612.1
XM_005256556.3 3729 Silent Mutation CCA,CCG P1265P XP_005256613.1
XM_005256558.2 3729 Silent Mutation CCA,CCG P1238P 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 3729 Intron NP_004131.3
XM_011523849.2 3729 Intron XP_011522151.1
XM_011523850.2 3729 Intron XP_011522152.1
XM_011523851.2 3729 Intron XP_011522153.1
XM_011523852.2 3729 Intron XP_011522154.1
XM_011523853.2 3729 Intron XP_011522155.1
XM_011523854.2 3729 Intron XP_011522156.1
XM_011523855.2 3729 Intron XP_011522157.1
XM_011523856.1 3729 Intron XP_011522158.1

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