Product Details

SNP ID
rs142277193
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:153863488 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCCGGCTCACCTGTACTCGCC[A/G]AAGGTCTCATCTTTCATCGGTCGGG
Phenotype
MIM: 308840
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
L1CAM PubMed Links

Gene Details

Gene
L1CAM
Gene Name
L1 cell adhesion molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000425.4 3737 Silent Mutation TTC,TTT F1173F NP_000416.1
NM_001143963.2 3737 Silent Mutation TTC,TTT F1168F NP_001137435.1
NM_001278116.1 3737 Silent Mutation TTC,TTT F1173F NP_001265045.1
NM_024003.3 3737 Silent Mutation TTC,TTT F1173F NP_076493.1

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