Product Details

SNP ID
rs149231616
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18245194 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTGGAAGCAGCGGGTAAAGGCGT[A/G]CTGCTCATTGCCCTTGCGGACCAGG
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 3766 Missense Mutation CAC,TAC H1241Y NP_001243193.1
NM_001256265.1 3766 Missense Mutation CAC,TAC H1197Y NP_001243194.1
NM_002018.3 3766 Missense Mutation CAC,TAC H1252Y NP_002009.1
XM_005256555.3 3766 Missense Mutation CAC,TAC H1279Y XP_005256612.1
XM_005256556.3 3766 Missense Mutation CAC,TAC H1278Y XP_005256613.1
XM_005256558.2 3766 Missense Mutation CAC,TAC H1251Y 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 3766 Intron NP_004131.3
XM_011523849.2 3766 Intron XP_011522151.1
XM_011523850.2 3766 Intron XP_011522152.1
XM_011523851.2 3766 Intron XP_011522153.1
XM_011523852.2 3766 Intron XP_011522154.1
XM_011523853.2 3766 Intron XP_011522155.1
XM_011523854.2 3766 Intron XP_011522156.1
XM_011523855.2 3766 Intron XP_011522157.1
XM_011523856.1 3766 Intron XP_011522158.1

View Full Product Details