Product Details

SNP ID
rs141705015
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:18229990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCCAGCGCCCTGGCCTTCGACC[C/T]GGAACTTCGCATCATGGCCATCGGC
Phenotype
MIM: 600966
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LLGL1 PubMed Links

Gene Details

Gene
LLGL1
Gene Name
LLGL1, scribble cell polarity complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004140.3 192 Missense Mutation CCG,CTG P44L NP_004131.3
XM_011523849.2 192 Missense Mutation CCG,CTG P44L XP_011522151.1
XM_011523850.2 192 Missense Mutation CCG,CTG P44L XP_011522152.1
XM_011523851.2 192 Missense Mutation CCG,CTG P44L XP_011522153.1
XM_011523852.2 192 Missense Mutation CCG,CTG P44L XP_011522154.1
XM_011523853.2 192 Missense Mutation CCG,CTG P44L XP_011522155.1
XM_011523854.2 192 Missense Mutation CCG,CTG P44L XP_011522156.1
XM_011523855.2 192 Missense Mutation CCG,CTG P44L XP_011522157.1
XM_011523856.1 192 Missense Mutation CCG,CTG P44L XP_011522158.1

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