Product Details

SNP ID
rs148714643
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:30728379 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGGTAGCCCAGCATCAAGCTTC[C/T]CTTCTTCATCATCCTCTCCTTAATG
Phenotype
MIM: 615601
Polymorphism
C/T, Transition 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 1476 Missense Mutation AGA,GGA R477G NP_997242.2
XM_017006297.1 1476 Missense Mutation AGA,GGA R458G XP_016861786.1
XM_017006298.1 1476 Missense Mutation AGA,GGA R231G XP_016861787.1

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