Product Details

SNP ID
rs146493551
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:63280077 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGCAGCTATTTCTTCATTCTCCA[A/T]CTCATATTTCTTCATGGCAACAAAA
Phenotype
MIM: 611470
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
LGSN PubMed Links

Gene Details

Gene
LGSN
Gene Name
lengsin, lens protein with glutamine synthetase domain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143940.1 2625 UTR 3 NP_001137412.1
NM_016571.2 2625 Missense Mutation ATG,TTG M492L NP_057655.2
XM_011535889.2 2625 Missense Mutation ATG,TTG M573L XP_011534191.1
XM_011535892.2 2625 Missense Mutation ATG,TTG M531L XP_011534194.1
XM_017010929.1 2625 Missense Mutation ATG,TTG M573L XP_016866418.1
XM_017010930.1 2625 Missense Mutation ATG,TTG M573L XP_016866419.1
XM_017010931.1 2625 Missense Mutation ATG,TTG M468L XP_016866420.1

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