Product Details

SNP ID
rs111590277
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:30728340 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCACCACCTGGCGGAAGAAGTTGA[C/G]CTTTCCCCGGTGCGGCTGGTAGCCC
Phenotype
MIM: 615601
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GADL1 PubMed Links

Gene Details

Gene
GADL1
Gene Name
glutamate decarboxylase like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207359.2 1515 Missense Mutation CTC,GTC L490V NP_997242.2
XM_017006297.1 1515 Missense Mutation CTC,GTC L471V XP_016861786.1
XM_017006298.1 1515 Missense Mutation CTC,GTC L244V XP_016861787.1

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